NM_001042475.3(CEP85L):c.1020+17269T>G
|
rs77186188
|
0.04176
|
NM_020433.5(JPH2):c.1513G>A (p.Gly505Ser)
|
rs140740776
|
0.01003
|
NM_000363.5(TNNI3):c.244C>T (p.Pro82Ser)
|
rs77615401
|
0.00699
|
NM_001368067.1(LDB3):c.349G>A (p.Asp117Asn)
|
rs121908338
|
0.00584
|
NM_000371.4(TTR):c.424G>A (p.Val142Ile)
|
rs76992529
|
0.00501
|
NM_182914.3(SYNE2):c.18632C>T (p.Thr6211Met)
|
rs36215895
|
0.00411
|
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu)
|
rs71534278
|
0.00318
|
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile)
|
rs187043152
|
0.00306
|
NM_003476.5(CSRP3):c.10T>C (p.Trp4Arg)
|
rs45550635
|
0.00271
|
NM_016599.5(MYOZ2):c.738A>G (p.Ile246Met)
|
rs140126678
|
0.00220
|
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)
|
rs76763715
|
0.00191
|
NM_001943.5(DSG2):c.166G>A (p.Val56Met)
|
rs121913013
|
0.00150
|
NM_032578.4(MYPN):c.59A>G (p.Tyr20Cys)
|
rs140148105
|
0.00130
|
NM_000256.3(MYBPC3):c.2497G>A (p.Ala833Thr)
|
rs199865688
|
0.00122
|
NM_002471.4(MYH6):c.3010G>T (p.Ala1004Ser)
|
rs143978652
|
0.00110
|
NM_004415.4(DSP):c.88G>A (p.Val30Met)
|
rs121912998
|
0.00094
|
NM_001289808.2(CRYAB):c.460G>A (p.Gly154Ser)
|
rs150516929
|
0.00088
|
NM_000203.5(IDUA):c.1205G>A (p.Trp402Ter)
|
rs121965019
|
0.00086
|
NM_032578.4(MYPN):c.3583G>A (p.Val1195Met)
|
rs71534280
|
0.00083
|
NM_145046.5(CALR3):c.245A>G (p.Lys82Arg)
|
rs142951029
|
0.00083
|
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys)
|
rs119103248
|
0.00083
|
NM_000447.3(PSEN2):c.389C>T (p.Ser130Leu)
|
rs63750197
|
0.00073
|
NM_001103.4(ACTN2):c.26A>G (p.Gln9Arg)
|
rs121434525
|
0.00070
|
NM_000335.5(SCN5A):c.659C>T (p.Thr220Ile)
|
rs45620037
|
0.00068
|
NM_000335.5(SCN5A):c.5504T>C (p.Ile1835Thr)
|
rs45563942
|
0.00066
|
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter)
|
rs121907943
|
0.00063
|
NM_000203.5(IDUA):c.208C>T (p.Gln70Ter)
|
rs121965020
|
0.00063
|
NM_007078.3(LDB3):c.566C>T (p.Ser189Leu)
|
rs45487699
|
0.00049
|
NM_000023.4(SGCA):c.229C>T (p.Arg77Cys)
|
rs28933693
|
0.00046
|
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys)
|
rs121964857
|
0.00044
|
NM_000371.4(TTR):c.328C>A (p.His110Asn)
|
rs121918074
|
0.00040
|
NM_078470.6(COX15):c.452C>G (p.Ser151Ter)
|
rs149718203
|
0.00030
|
NM_001042475.3(CEP85L):c.1020+17275G>C
|
rs188578681
|
0.00029
|
NM_001103.4(ACTN2):c.1484C>T (p.Thr495Met)
|
rs200248944
|
0.00027
|
NM_144573.4(NEXN):c.835C>T (p.Arg279Cys)
|
rs146245480
|
0.00025
|
NM_000256.3(MYBPC3):c.1468G>A (p.Gly490Arg)
|
rs200625851
|
0.00024
|
NM_003673.4(TCAP):c.458G>A (p.Arg153His)
|
rs149585781
|
0.00021
|
NM_000157.4(GBA1):c.1342G>C (p.Asp448His)
|
rs1064651
|
0.00020
|
NM_000432.4(MYL2):c.37G>A (p.Ala13Thr)
|
rs104894363
|
0.00020
|
NM_000152.5(GAA):c.525del (p.Glu176fs)
|
rs386834235
|
0.00019
|
NM_000371.4(TTR):c.371G>A (p.Arg124His)
|
rs121918095
|
0.00019
|
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)
|
rs104894423
|
0.00016
|
NM_006172.4(NPPA):c.449G>A (p.Arg150Gln)
|
rs202102042
|
0.00016
|
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His)
|
rs267606904
|
0.00015
|
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys)
|
rs137852623
|
0.00013
|
NM_020774.4(MIB1):c.2827G>T (p.Val943Phe)
|
rs200035428
|
0.00013
|
NM_000337.6(SGCD):c.451T>G (p.Ser151Ala)
|
rs121909298
|
0.00012
|
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser)
|
rs364897
|
0.00011
|
NM_005138.3(SCO2):c.418G>A (p.Glu140Lys)
|
rs74315511
|
0.00011
|
NM_078470.6(COX15):c.396-3C>G
|
rs200910834
|
0.00011
|
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys)
|
rs137853197
|
0.00011
|
NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu)
|
rs60890628
|
0.00011
|
NM_003280.3(TNNC1):c.435C>A (p.Asp145Glu)
|
rs267607124
|
0.00010
|
NM_006767.4(LZTR1):c.628C>T (p.Arg210Ter)
|
rs150419186
|
0.00010
|
NM_014000.3(VCL):c.829C>A (p.Leu277Met)
|
rs71579353
|
0.00010
|
NM_024334.3(TMEM43):c.169G>A (p.Ala57Thr)
|
rs151010429
|
0.00010
|
NM_006767.4(LZTR1):c.1943-256C>T
|
rs761685529
|
0.00009
|
NM_007078.3(LDB3):c.1823C>T (p.Pro608Leu)
|
rs145983824
|
0.00009
|
NM_022114.4(PRDM16):c.3301G>A (p.Val1101Met)
|
rs201654872
|
0.00009
|
NM_024334.3(TMEM43):c.271A>G (p.Ile91Val)
|
rs144811578
|
0.00009
|
NM_000021.4(PSEN1):c.998A>G (p.Asp333Gly)
|
rs121917809
|
0.00008
|
NM_000126.4(ETFA):c.797C>T (p.Thr266Met)
|
rs119458970
|
0.00008
|
NM_004281.4(BAG3):c.211C>T (p.Arg71Trp)
|
rs387906874
|
0.00008
|
NM_005061.3(RPL3L):c.566C>T (p.Thr189Met)
|
rs924125081
|
0.00008
|
NM_020774.4(MIB1):c.1588C>T (p.Arg530Ter)
|
rs201850378
|
0.00007
|
NM_000157.4(GBA1):c.115+1G>A
|
rs104886460
|
0.00006
|
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)
|
rs80356771
|
0.00006
|
NM_000157.4(GBA1):c.1604G>A (p.Arg535His)
|
rs75822236
|
0.00006
|
NM_000157.4(GBA1):c.84dup (p.Leu29fs)
|
rs387906315
|
0.00006
|
NM_000256.3(MYBPC3):c.1624G>C (p.Glu542Gln)
|
rs121909374
|
0.00006
|
NM_002018.4(FLII):c.3718C>T (p.Arg1240Cys)
|
rs563225941
|
0.00006
|
NM_003476.5(CSRP3):c.131T>C (p.Leu44Pro)
|
rs104894205
|
0.00006
|
NM_001005242.3(PKP2):c.235C>T (p.Arg79Ter)
|
rs121434420
|
0.00005
|
NM_001289808.2(CRYAB):c.470G>A (p.Arg157His)
|
rs141638421
|
0.00005
|
NM_003476.5(CSRP3):c.136A>C (p.Ser46Arg)
|
rs137852765
|
0.00005
|
NM_000256.3(MYBPC3):c.3330+2T>G
|
rs387906397
|
0.00004
|
NM_000256.3(MYBPC3):c.3373G>A (p.Val1125Met)
|
rs121909378
|
0.00004
|
NM_000371.4(TTR):c.148G>A (p.Val50Met)
|
rs28933979
|
0.00004
|
NM_000371.4(TTR):c.262A>T (p.Ile88Leu)
|
rs121918085
|
0.00004
|
NM_001005242.3(PKP2):c.2357+1G>A
|
rs111517471
|
0.00004
|
NM_002471.4(MYH6):c.2384G>A (p.Arg795Gln)
|
rs267606907
|
0.00004
|
NM_002633.3(PGM1):c.787G>T (p.Asp263Tyr)
|
rs587777404
|
0.00004
|
NM_003140.3(SRY):c.53G>A (p.Ser18Asn)
|
rs104894971
|
0.00004
|
NM_003239.5(TGFB3):c.-30G>A
|
rs770828281
|
0.00004
|
NM_004281.4(BAG3):c.652C>T (p.Arg218Trp)
|
rs397514506
|
0.00004
|
NM_004453.4(ETFDH):c.250G>A (p.Ala84Thr)
|
rs121964954
|
0.00004
|
NM_005138.3(SCO2):c.157C>T (p.Gln53Ter)
|
rs74315510
|
0.00004
|
NM_007078.3(LDB3):c.2017G>A (p.Asp673Asn)
|
rs45514002
|
0.00004
|
NM_020433.5(JPH2):c.1282C>T (p.Gln428Ter)
|
rs199896820
|
0.00004
|
NM_020778.5(ALPK3):c.3175C>T (p.Arg1059Ter)
|
rs749465164
|
0.00004
|
NM_078470.6(COX15):c.649C>T (p.Arg217Trp)
|
rs28939711
|
0.00004
|
NM_000018.4(ACADVL):c.1182+1G>A
|
rs113690956
|
0.00003
|
NM_000018.4(ACADVL):c.1837C>T (p.Arg613Trp)
|
rs118204014
|
0.00003
|
NM_000023.4(SGCA):c.293G>A (p.Arg98His)
|
rs137852621
|
0.00003
|
NM_000126.4(ETFA):c.346G>A (p.Gly116Arg)
|
rs119458971
|
0.00003
|
NM_000203.5(IDUA):c.1598C>G (p.Pro533Arg)
|
rs121965021
|
0.00003
|
NM_000203.5(IDUA):c.1614del (p.His539fs)
|
rs727503967
|
0.00003
|
NM_001005242.3(PKP2):c.2014-1G>C
|
rs193922674
|
0.00003
|
NM_001018005.2(TPM1):c.523G>A (p.Asp175Asn)
|
rs104894503
|
0.00003
|
NM_001267550.2(TTN):c.14339G>A (p.Ser4780Asn)
|
rs147879266
|
0.00003
|
NM_001458.5(FLNC):c.4871C>T (p.Ser1624Leu)
|
rs879255639
|
0.00003
|
NM_003673.4(TCAP):c.208C>T (p.Arg70Trp)
|
rs775636212
|
0.00003
|
NM_005138.3(SCO2):c.511C>T (p.Arg171Trp)
|
rs28937598
|
0.00003
|
NM_005159.5(ACTC1):c.941G>A (p.Arg314His)
|
rs121912673
|
0.00003
|
NM_012082.4(ZFPM2):c.779G>A (p.Arg260Gln)
|
rs200834568
|
0.00003
|
NM_022114.4(PRDM16):c.872C>T (p.Pro291Leu)
|
rs397514744
|
0.00003
|
NM_000018.4(ACADVL):c.1322G>A (p.Gly441Asp)
|
rs2309689
|
0.00002
|
NM_000256.3(MYBPC3):c.2373dup (p.Trp792fs)
|
rs397515963
|
0.00002
|
NM_000256.3(MYBPC3):c.2459G>A (p.Arg820Gln)
|
rs2856655
|
0.00002
|
NM_000256.3(MYBPC3):c.2827C>T (p.Arg943Ter)
|
rs387907267
|
0.00002
|
NM_000257.4(MYH7):c.1046T>C (p.Met349Thr)
|
rs121913640
|
0.00002
|
NM_000257.4(MYH7):c.2167C>T (p.Arg723Cys)
|
rs121913630
|
0.00002
|
NM_000258.3(MYL3):c.461G>A (p.Arg154His)
|
rs104893749
|
0.00002
|
NM_001105206.3(LAMA4):c.3238C>T (p.Arg1080Ter)
|
rs372615994
|
0.00002
|
NM_001206641.3(COA6):c.349G>T (p.Glu117Ter)
|
rs146440690
|
0.00002
|
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg)
|
rs375159973
|
0.00002
|
NM_001386795.1(DTNA):c.362C>T (p.Pro121Leu)
|
rs104894654
|
0.00002
|
NM_001927.4(DES):c.1048C>T (p.Arg350Trp)
|
rs62636492
|
0.00002
|
NM_001943.5(DSG2):c.991G>A (p.Glu331Lys)
|
rs121913012
|
0.00002
|
NM_001985.3(ETFB):c.382G>A (p.Asp128Asn)
|
rs104894678
|
0.00002
|
NM_002635.4(SLC25A3):c.158-303A>G
|
rs745305932
|
0.00002
|
NM_002667.5(PLN):c.116T>G (p.Leu39Ter)
|
rs111033560
|
0.00002
|
NM_005061.3(RPL3L):c.347G>A (p.Arg116His)
|
rs376654625
|
0.00002
|
NM_005138.3(SCO2):c.268C>T (p.Arg90Ter)
|
rs74315512
|
0.00002
|
NM_006150.5(PRICKLE3):c.157C>T (p.Arg53Trp)
|
rs2065470015
|
0.00002
|
NM_020778.5(ALPK3):c.4130-1G>A
|
rs762110595
|
0.00002
|
NM_000018.4(ACADVL):c.1349G>A (p.Arg450His)
|
rs118204016
|
0.00001
|
NM_000018.4(ACADVL):c.1372T>C (p.Phe458Leu)
|
rs118204017
|
0.00001
|
NM_000023.4(SGCA):c.574C>T (p.Arg192Ter)
|
rs387907298
|
0.00001
|
NM_000126.4(ETFA):c.470T>G (p.Val157Gly)
|
rs119458969
|
0.00001
|
NM_000157.4(GBA1):c.1085C>T (p.Thr362Ile)
|
rs76539814
|
0.00001
|
NM_000157.4(GBA1):c.1246G>A (p.Gly416Ser)
|
rs121908311
|
0.00001
|
NM_000157.4(GBA1):c.1297G>T (p.Val433Leu)
|
rs80356769
|
0.00001
|
NM_000157.4(GBA1):c.259C>T (p.Arg87Trp)
|
rs1141814
|
0.00001
|
NM_000157.4(GBA1):c.476G>A (p.Arg159Gln)
|
rs79653797
|
0.00001
|
NM_000157.4(GBA1):c.754T>A (p.Phe252Ile)
|
rs381737
|
0.00001
|
NM_000157.4(GBA1):c.764T>A (p.Phe255Tyr)
|
rs74500255
|
0.00001
|
NM_000203.5(IDUA):c.266G>A (p.Arg89Gln)
|
rs121965029
|
0.00001
|
NM_000231.3(SGCG):c.87dup (p.Gly30fs)
|
rs762777463
|
0.00001
|
NM_000232.5(SGCB):c.452C>G (p.Thr151Arg)
|
rs28936383
|
0.00001
|
NM_000256.3(MYBPC3):c.2864_2865del (p.Pro955fs)
|
rs397515990
|
0.00001
|
NM_000256.3(MYBPC3):c.3286G>T (p.Glu1096Ter)
|
rs121909377
|
0.00001
|
NM_000257.4(MYH7):c.1357C>T (p.Arg453Cys)
|
rs121913625
|
0.00001
|
NM_000257.4(MYH7):c.1447G>A (p.Glu483Lys)
|
rs121913651
|
0.00001
|
NM_000257.4(MYH7):c.1491G>T (p.Glu497Asp)
|
rs267606911
|
0.00001
|
NM_000257.4(MYH7):c.1816G>A (p.Val606Met)
|
rs121913627
|
0.00001
|
NM_000257.4(MYH7):c.2155C>T (p.Arg719Trp)
|
rs121913637
|
0.00001
|
NM_000257.4(MYH7):c.2609G>A (p.Arg870His)
|
rs36211715
|
0.00001
|
NM_000257.4(MYH7):c.2717A>G (p.Asp906Gly)
|
rs267606908
|
0.00001
|
NM_000257.4(MYH7):c.2722C>G (p.Leu908Val)
|
rs121913631
|
0.00001
|
NM_000257.4(MYH7):c.728G>A (p.Arg243His)
|
rs267606910
|
0.00001
|
NM_000257.4(MYH7):c.767G>A (p.Gly256Glu)
|
rs121913633
|
0.00001
|
NM_000258.3(MYL3):c.427G>A (p.Glu143Lys)
|
rs104893750
|
0.00001
|
NM_000335.5(SCN5A):c.3820G>A (p.Asp1274Asn)
|
rs137854618
|
0.00001
|
NM_000335.5(SCN5A):c.665G>A (p.Arg222Gln)
|
rs45546039
|
0.00001
|
NM_000337.6(SGCD):c.493C>T (p.Arg165Ter)
|
rs121909295
|
0.00001
|
NM_000363.5(TNNI3):c.433C>T (p.Arg145Trp)
|
rs104894724
|
0.00001
|
NM_000363.5(TNNI3):c.586G>A (p.Asp196Asn)
|
rs104894727
|
0.00001
|
NM_000371.4(TTR):c.118G>A (p.Val40Ile)
|
rs121918093
|
0.00001
|
NM_000371.4(TTR):c.238A>G (p.Thr80Ala)
|
rs121918070
|
0.00001
|
NM_000371.4(TTR):c.349G>T (p.Ala117Ser)
|
rs267607161
|
0.00001
|
NM_000371.4(TTR):c.88T>C (p.Cys30Arg)
|
rs121918083
|
0.00001
|
NM_000432.4(MYL2):c.173G>A (p.Arg58Gln)
|
rs104894369
|
0.00001
|
NM_000432.4(MYL2):c.283C>G (p.Pro95Ala)
|
rs121913658
|
0.00001
|
NM_001079802.2(FKTN):c.920G>A (p.Arg307Gln)
|
rs119463992
|
0.00001
|
NM_001105206.3(LAMA4):c.2849C>T (p.Pro950Leu)
|
rs387907365
|
0.00001
|
NM_001134363.3(RBM20):c.1901G>A (p.Arg634Gln)
|
rs267607001
|
0.00001
|
NM_001134363.3(RBM20):c.1906C>T (p.Arg636Cys)
|
rs267607002
|
0.00001
|
NM_001134363.3(RBM20):c.1907G>A (p.Arg636His)
|
rs267607004
|
0.00001
|
NM_001267550.2(TTN):c.160G>A (p.Val54Met)
|
rs139517732
|
0.00001
|
NM_001276345.2(TNNT2):c.305G>A (p.Arg102Gln)
|
rs121964856
|
0.00001
|
NM_001281740.3(FHOD3):c.1583A>G (p.Tyr528Cys)
|
rs2036159242
|
0.00001
|
NM_001386795.1(DTNA):c.146A>G (p.Asn49Ser)
|
rs775975702
|
0.00001
|
NM_001943.5(DSG2):c.137G>A (p.Arg46Gln)
|
rs121913008
|
0.00001
|
NM_001943.5(DSG2):c.1520G>A (p.Cys507Tyr)
|
rs121913009
|
0.00001
|
NM_001943.5(DSG2):c.355C>T (p.Arg119Ter)
|
rs753052874
|
0.00001
|
NM_002230.4(JUP):c.794G>A (p.Arg265His)
|
rs782440692
|
0.00001
|
NM_002471.4(MYH6):c.4369G>A (p.Glu1457Lys)
|
rs267606905
|
0.00001
|
NM_002524.5(NRAS):c.179G>A (p.Gly60Glu)
|
rs267606920
|
0.00001
|
NM_002633.3(PGM1):c.1507C>T (p.Arg503Ter)
|
rs397515423
|
0.00001
|
NM_002633.3(PGM1):c.1547T>C (p.Leu516Pro)
|
rs587777401
|
0.00001
|
NM_002633.3(PGM1):c.343A>G (p.Thr115Ala)
|
rs121918371
|
0.00001
|
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met)
|
rs121918457
|
0.00001
|
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys)
|
rs121918459
|
0.00001
|
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp)
|
rs28933386
|
0.00001
|
NM_002880.4(RAF1):c.1922C>T (p.Thr641Met)
|
rs587777587
|
0.00001
|
NM_002880.4(RAF1):c.709G>A (p.Ala237Thr)
|
rs587777588
|
0.00001
|
NM_003140.3(SRY):c.270C>G (p.Ile90Met)
|
rs104894959
|
0.00001
|
NM_003239.5(TGFB3):c.*495C>T
|
rs387906514
|
0.00001
|
NM_003280.3(TNNC1):c.23C>T (p.Ala8Val)
|
rs267607125
|
0.00001
|
NM_003280.3(TNNC1):c.86T>A (p.Leu29Gln)
|
rs267607123
|
0.00001
|
NM_003476.5(CSRP3):c.206A>G (p.Lys69Arg)
|
rs137852764
|
0.00001
|
NM_003673.4(TCAP):c.260G>A (p.Arg87Gln)
|
rs121434298
|
0.00001
|
NM_004281.4(BAG3):c.367C>T (p.Arg123Ter)
|
rs387906875
|
0.00001
|
NM_004415.4(DSP):c.939+1G>A
|
rs727504443
|
0.00001
|
NM_004999.4(MYO6):c.2545C>T (p.Arg849Ter)
|
rs121912561
|
0.00001
|
NM_005061.3(RPL3L):c.1027C>T (p.Arg343Trp)
|
rs1465045317
|
0.00001
|
NM_005061.3(RPL3L):c.80G>A (p.Gly27Asp)
|
rs770344400
|
0.00001
|
NM_005061.3(RPL3L):c.922G>A (p.Asp308Asn)
|
rs771732216
|
0.00001
|
NM_005159.5(ACTC1):c.268C>T (p.His90Tyr)
|
rs121912676
|
0.00001
|
NM_005159.5(ACTC1):c.301G>A (p.Glu101Lys)
|
rs193922680
|
0.00001
|
NM_005733.3(KIF20A):c.544C>T (p.Arg182Trp)
|
rs771130761
|
0.00001
|
NM_006767.4(LZTR1):c.2220-17C>A
|
rs1249726034
|
0.00001
|
NM_006767.4(LZTR1):c.850C>T (p.Arg284Cys)
|
rs797045165
|
0.00001
|
NM_007078.3(LDB3):c.617C>T (p.Thr206Ile)
|
rs121908337
|
0.00001
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
NM_012250.6(RRAS2):c.208G>A (p.Ala70Thr)
|
rs782457908
|
0.00001
|
NM_014000.3(VCL):c.2923C>T (p.Arg975Trp)
|
rs121917776
|
0.00001
|
NM_016203.4(PRKAG2):c.905G>A (p.Arg302Gln)
|
rs121908987
|
0.00001
|
NM_020433.5(JPH2):c.421T>C (p.Tyr141His)
|
rs387906897
|
0.00001
|
NM_021044.4(DHH):c.485T>C (p.Leu162Pro)
|
rs111033589
|
0.00001
|
NM_022114.4(PRDM16):c.2447A>G (p.Asn816Ser)
|
rs397514743
|
0.00001
|
NM_024422.6(DSC2):c.631-2A>G
|
rs397514042
|
0.00001
|
NM_032578.4(MYPN):c.3263G>A (p.Arg1088His)
|
rs71584501
|
0.00001
|
NM_032656.4(DHX37):c.923G>A (p.Arg308Gln)
|
rs1384892917
|
0.00001
|
NM_144573.4(NEXN):c.391C>G (p.Gln131Glu)
|
rs387907079
|
0.00001
|
NM_152594.3(SPRED1):c.70C>T (p.Arg24Ter)
|
rs121434313
|
0.00001
|
NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln)
|
rs11575937
|
0.00001
|
NM_181784.3(SPRED2):c.187C>T (p.Arg63Ter)
|
rs780902942
|
0.00001
|
NM_207163.3(LMOD2):c.1537C>T (p.Arg513Ter)
|
rs201276725
|
0.00001
|
FGFR3, FGFR3/IGH FUSION
|
|
|
NC_000010.11:g.119674392_119683124del
|
|
|
NC_000017.10:g.(69472000_?)_(?_69712000)del
|
|
|
NC_000017.11:g.(?_71475000)_(71611000_?)del
|
|
|
NC_000017.11:g.71412006_71988969delinsTACCTTTTATT
|
|
|
NC_000023.11:g.(33020201_33211281)_(33211556_?)del
|
|
|
NC_000023.11:g.(?_30304206_30309390_?)dup
|
|
|
NC_012920.1:m.11778G>A
|
rs199476112
|
|
NC_012920.1:m.14484T>C
|
rs199476104
|
|
NC_012920.1:m.1555A>G
|
rs267606617
|
|
NC_012920.1:m.3460G>A
|
rs199476118
|
|
NC_012920.1:m.7444G>A
|
rs199474822
|
|
NG_008935.1:g.(21725_81488)_(328930_337985)del
|
|
|
NG_012232.1:g.702849_702850insinsY13186.2:g.2333_2491
|
|
|
NG_016165.1:g.(170_?)_(?_2014)del
|
|
|
NM_000018.3(ACADVL):c.[194C>T;739A>C]
|
|
|
NM_000018.4(ACADVL):c.1080_1182+2del
|
rs2142981921
|
|
NM_000018.4(ACADVL):c.1144A>C (p.Lys382Gln)
|
rs118204015
|
|
NM_000018.4(ACADVL):c.1246G>A (p.Ala416Thr)
|
rs118204018
|
|
NM_000018.4(ACADVL):c.343del
|
rs387906249
|
|
NM_000018.4(ACADVL):c.385GAG[1] (p.Glu130del)
|
rs387906251
|
|
NM_000018.4(ACADVL):c.890AGA[2] (p.Lys299del)
|
rs387906252
|
|
NM_000023.4(SGCA):c.410A>G (p.Glu137Gly)
|
rs397514451
|
|
NM_000023.4(SGCA):c.524T>C (p.Val175Ala)
|
rs137852622
|
|
NM_000116.5(TAFAZZIN):c.109+5G>C
|
rs2148185111
|
|
NM_000116.5(TAFAZZIN):c.110-2A>G
|
rs1603376833
|
|
NM_000116.5(TAFAZZIN):c.153C>G (p.Tyr51Ter)
|
rs104894941
|
|
NM_000116.5(TAFAZZIN):c.239-1G>A
|
rs1603377590
|
|
NM_000116.5(TAFAZZIN):c.239-1G>C
|
rs1603377590
|
|
NM_000116.5(TAFAZZIN):c.280C>A (p.Arg94Ser)
|
rs104894942
|
|
NM_000116.5(TAFAZZIN):c.284+110G>A
|
rs1603377747
|
|
NM_000116.5(TAFAZZIN):c.352T>C (p.Cys118Arg)
|
rs104894937
|
|
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs)
|
rs2148211636
|
|
NM_000116.5(TAFAZZIN):c.589G>A (p.Gly197Arg)
|
rs132630277
|
|
NM_000116.5(TAFAZZIN):c.605_608del (p.Glu202fs)
|
rs1603381671
|
|
NM_000116.5(TAFAZZIN):c.634del (p.Leu212fs)
|
rs2148212610
|
|
NM_000116.5(TAFAZZIN):c.647-1G>C
|
rs587776741
|
|
NM_000116.5(TAFAZZIN):c.718G>A (p.Gly240Arg)
|
rs387907218
|
|
NM_000117.3(EMD):c.130C>T (p.Gln44Ter)
|
rs132630262
|
|
NM_000117.3(EMD):c.139_140dup (p.Leu48fs)
|
rs2148128153
|
|
NM_000117.3(EMD):c.1A>G (p.Met1Val)
|
rs267606782
|
|
NM_000117.3(EMD):c.251_255del (p.Leu84fs)
|
rs782452523
|
|
NM_000117.3(EMD):c.266-3A>G
|
rs2148128459
|
|
NM_000117.3(EMD):c.506_507del (p.Pro169fs)
|
rs1422834817
|
|
NM_000117.3(EMD):c.547C>A (p.Pro183Thr)
|
rs104894806
|
|
NM_000117.3(EMD):c.548C>A (p.Pro183His)
|
rs104894805
|
|
NM_000117.3(EMD):c.615del (p.Ile206fs)
|
rs2148128932
|
|
NM_000117.3:c.55_83del
|
|
|
NM_000126.4(ETFA):c.806TAG[1] (p.Val270del)
|
rs779140971
|
|
NM_000126.4(ETFA):c.963+1del
|
rs746488455
|
|
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu)
|
rs78311289
|
|
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys)
|
rs121913482
|
|
NM_000152.5(GAA):c.1076-1G>A
|
rs1555600050
|
|
NM_000152.5(GAA):c.2483_2646+1del
|
rs1555603048
|
|
NM_000157.4(GBA1):c.1043C>T (p.Ala348Val)
|
rs78396650
|
|
NM_000157.4(GBA1):c.1053G>T (p.Trp351Cys)
|
rs121908304
|
|
NM_000157.4(GBA1):c.1208G>C (p.Ser403Thr)
|
rs121908307
|
|
NM_000157.4(GBA1):c.1228C>G (p.Leu410Val)
|
rs121908314
|
|
NM_000157.4(GBA1):c.1265_1319del (p.Leu422fs)
|
rs80356768
|
|
NM_000157.4(GBA1):c.1319C>T (p.Pro440Leu)
|
rs74598136
|
|
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)
|
rs421016
|
|
NM_000157.4(GBA1):c.1549G>A (p.Gly517Ser)
|
rs121908301
|
|
NM_000157.4(GBA1):c.160G>T (p.Val54Leu)
|
rs121908302
|
|
NM_000157.4(GBA1):c.254G>A (p.Gly85Glu)
|
rs77829017
|
|
NM_000157.4(GBA1):c.354G>C (p.Lys118Asn)
|
rs121908312
|
|
NM_000157.4(GBA1):c.481C>T (p.Pro161Ser)
|
rs121908299
|
|
NM_000157.4(GBA1):c.586A>C (p.Lys196Gln)
|
rs121908297
|
|
NM_000157.4(GBA1):c.73del (p.Leu25fs)
|
rs397518433
|
|
NM_000157.4(GBA1):c.751T>C (p.Tyr251His)
|
rs121908300
|
|
NM_000157.4(GBA1):c.763T>G (p.Phe255Val)
|
rs121908303
|
|
NM_000157.4(GBA1):c.983C>T (p.Pro328Leu)
|
rs121908298
|
|
NM_000203.3(IDUA):c.[1225G>C;1962A>T]
|
|
|
NM_000203.5(IDUA):c.1037T>G (p.Leu346Arg)
|
rs121965033
|
|
NM_000203.5(IDUA):c.1096A>C (p.Thr366Pro)
|
rs121965024
|
|
NM_000203.5(IDUA):c.1861C>T (p.Arg621Ter)
|
rs121965025
|
|
NM_000203.5(IDUA):c.192C>A (p.Tyr64Ter)
|
rs121965022
|
|
NM_000203.5(IDUA):c.613_617dup (p.Glu207fs)
|
rs786200915
|
|
NM_000203.5(IDUA):c.928C>T (p.Gln310Ter)
|
rs121965023
|
|
NM_000231.3(SGCG):c.525del (p.Phe175fs)
|
rs786204786
|
|
NM_000231.3(SGCG):c.800_801del (p.Cys267fs)
|
rs780348174
|
|
NM_000231.3(SGCG):c.801_802del (p.Pro268fs)
|
rs2137534216
|
|
NM_000231.3(SGCG):c.848G>A (p.Cys283Tyr)
|
rs104894422
|
|
NM_000232.5(SGCB):c.243+3_243+6del
|
rs1553940660
|
|
NM_000232.5(SGCB):c.272G>C (p.Arg91Pro)
|
rs104893869
|
|
NM_000232.5(SGCB):c.272G>T (p.Arg91Leu)
|
rs104893869
|
|
NM_000232.5(SGCB):c.299T>A (p.Met100Lys)
|
rs104893871
|
|
NM_000232.5(SGCB):c.323T>G (p.Leu108Arg)
|
rs104893870
|
|
NM_000232.5(SGCB):c.377_384dup (p.Gly129delinsGlnTer)
|
rs751427729
|
|
NM_000232.5(SGCB):c.466_467del (p.Glu156fs)
|
rs1578125670
|
|
NM_000232.5(SGCB):c.552T>G (p.Tyr184Ter)
|
rs104893868
|
|
NM_000256.3(MYBPC3):c.1224-19G>A
|
rs587776699
|
|
NM_000256.3(MYBPC3):c.1469G>T (p.Gly490Val)
|
rs397514752
|
|
NM_000256.3(MYBPC3):c.175A>G (p.Thr59Ala)
|
rs121909375
|
|
NM_000256.3(MYBPC3):c.1928-2A>G
|
rs397515937
|
|
NM_000256.3(MYBPC3):c.2234A>G (p.Asp745Gly)
|
rs727503190
|
|
NM_000256.3(MYBPC3):c.2308+1G>A
|
rs112738974
|
|
NM_000256.3(MYBPC3):c.2309-26A>G
|
rs886041030
|
|
NM_000256.3(MYBPC3):c.2534_2538del (p.Arg845fs)
|
rs397515973
|
|
NM_000256.3(MYBPC3):c.2618C>A (p.Pro873His)
|
rs371401403
|
|
NM_000256.3(MYBPC3):c.2618C>T (p.Pro873Leu)
|
rs371401403
|
|
NM_000256.3(MYBPC3):c.2843A>C (p.Asn948Thr)
|
rs121909376
|
|
NM_000256.3(MYBPC3):c.3330+5G>A
|
rs373746463
|
|
NM_000256.3(MYBPC3):c.3490+1G>A
|
rs397516020
|
|
NM_000256.3(MYBPC3):c.3659_3662delinsTTCAAGAATGGC (p.Asp1220fs)
|
rs886041031
|
|
NM_000256.3(MYBPC3):c.3742_3759dup (p.Gly1248_Cys1253dup)
|
rs193922384
|
|
NM_000256.3(MYBPC3):c.3791G>T (p.Cys1264Phe)
|
rs397514751
|
|
NM_000256.3(MYBPC3):c.821+5G>A
|
rs397516077
|
|
NM_000256.3(MYBPC3):c.906-1G>C
|
rs587776700
|
|
NM_000256.3(MYBPC3):c.913_914del (p.Phe305fs)
|
rs397516080
|
|
NM_000257.3(MYH7):c.[1816G>A;2183C>T]
|
|
|
NM_000257.4(MYH7):c.1207C>T (p.Arg403Trp)
|
rs3218714
|
|
NM_000257.4(MYH7):c.1208G>A (p.Arg403Gln)
|
rs121913624
|
|
NM_000257.4(MYH7):c.1208G>T (p.Arg403Leu)
|
rs121913624
|
|
NM_000257.4(MYH7):c.1357C>A (p.Arg453Ser)
|
rs121913625
|
|
NM_000257.4(MYH7):c.1538T>G (p.Phe513Cys)
|
rs121913636
|
|
NM_000257.4(MYH7):c.1594T>C (p.Ser532Pro)
|
rs121913642
|
|
NM_000257.4(MYH7):c.1750G>C (p.Gly584Arg)
|
rs121913626
|
|
NM_000257.4(MYH7):c.1925C>T (p.Ser642Leu)
|
rs121913646
|
|
NM_000257.4(MYH7):c.2146G>A (p.Gly716Arg)
|
rs121913638
|
|
NM_000257.4(MYH7):c.2156G>A (p.Arg719Gln)
|
rs121913641
|
|
NM_000257.4(MYH7):c.2221G>C (p.Gly741Arg)
|
rs121913632
|
|
NM_000257.4(MYH7):c.2292C>G (p.Phe764Leu)
|
rs121913643
|
|
NM_000257.4(MYH7):c.2333A>G (p.Asp778Gly)
|
rs121913634
|
|
NM_000257.4(MYH7):c.2770G>A (p.Glu924Lys)
|
rs121913628
|
|
NM_000257.4(MYH7):c.2803G>A (p.Glu935Lys)
|
rs121913639
|
|
NM_000257.4(MYH7):c.2845G>A (p.Glu949Lys)
|
rs121913629
|
|
NM_000257.4(MYH7):c.5134C>T (p.Arg1712Trp)
|
rs121913650
|
|
NM_000257.4(MYH7):c.5296G>A (p.Ala1766Thr)
|
rs267606909
|
|
NM_000257.4(MYH7):c.5378T>C (p.Leu1793Pro)
|
rs121913654
|
|
NM_000257.4(MYH7):c.5533C>T (p.Arg1845Trp)
|
rs28933098
|
|
NM_000257.4(MYH7):c.5702A>T (p.His1901Leu)
|
rs121913649
|
|
NM_000257.4(MYH7):c.5754C>R (p.Asn1918Lys)
|
rs138110910
|
|
NM_000257.4(MYH7):c.5807A>G (p.Ter1936Trp)
|
rs367543053
|
|
NM_000257.4(MYH7):c.667G>A (p.Ala223Thr)
|
rs121913645
|
|
NM_000257.4(MYH7):c.732+1G>A
|
rs730880850
|
|
NM_000257.4(MYH7):c.746G>A (p.Arg249Gln)
|
rs3218713
|
|
NM_000257.4(MYH7):c.847T>G (p.Tyr283Asp)
|
rs397515482
|
|
NM_000258.3(MYL3):c.445A>G (p.Met149Val)
|
rs104893748
|
|
NM_000335.5(SCN5A):c.2550_2551dup (p.Phe851fs)
|
rs397514450
|
|
NM_000335.5(SCN5A):c.4780G>C (p.Asp1594His)
|
rs137854607
|
|
NM_000337.6(SGCD):c.391G>C (p.Ala131Pro)
|
rs267607045
|
|
NM_000337.6(SGCD):c.657del (p.Thr220fs)
|
rs1369919728
|
|
NM_000337.6(SGCD):c.699+13_699+15del
|
rs397517924
|
|
NM_000337.6(SGCD):c.784G>A (p.Glu262Lys)
|
rs121909297
|
|
NM_000337.6(SGCD):c.89G>A (p.Trp30Ter)
|
rs121909296
|
|
NM_000363.5(TNNI3):c.106A>C (p.Lys36Gln)
|
rs267607130
|
|
NM_000363.5(TNNI3):c.431T>A (p.Leu144Gln)
|
rs121917760
|
|
NM_000363.5(TNNI3):c.433C>G (p.Arg145Gly)
|
rs104894724
|
|
NM_000363.5(TNNI3):c.511G>A (p.Ala171Thr)
|
rs121917761
|
|
NM_000363.5(TNNI3):c.532A>G (p.Lys178Glu)
|
rs104894730
|
|
NM_000363.5(TNNI3):c.547_549del (p.Lys183del)
|
rs2147283135
|
|
NM_000363.5(TNNI3):c.555C>G (p.Asn185Lys)
|
rs267607129
|
|
NM_000363.5(TNNI3):c.569A>G (p.Asp190Gly)
|
rs104894728
|
|
NM_000363.5(TNNI3):c.575G>A (p.Arg192His)
|
rs104894729
|
|
NM_000363.5(TNNI3):c.5C>T (p.Ala2Val)
|
rs397516359
|
|
NM_000363.5(TNNI3):c.607G>A (p.Gly203Ser)
|
rs267607127
|
|
NM_000363.5(TNNI3):c.616A>C (p.Lys206Gln)
|
rs104894725
|
|
NM_000363.5(TNNI3):c.61C>T (p.Arg21Cys)
|
rs267607128
|
|
NM_000371.4(TTR):c.133G>A (p.Ala45Thr)
|
rs104894664
|
|
NM_000371.4(TTR):c.148G>C (p.Val50Leu)
|
rs28933979
|
|
NM_000371.4(TTR):c.149T>C (p.Val50Ala)
|
rs79977247
|
|
NM_000371.4(TTR):c.157T>A (p.Phe53Ile)
|
rs121918068
|
|
NM_000371.4(TTR):c.157T>C (p.Phe53Leu)
|
rs121918068
|
|
NM_000371.4(TTR):c.166G>C (p.Ala56Pro)
|
rs121918077
|
|
NM_000371.4(TTR):c.185A>G (p.Glu62Gly)
|
rs11541796
|
|
NM_000371.4(TTR):c.191T>C (p.Phe64Ser)
|
rs104894665
|
|
NM_000371.4(TTR):c.199G>A (p.Gly67Arg)
|
rs387906523
|
|
NM_000371.4(TTR):c.199G>C (p.Gly67Arg)
|
rs387906523
|
|
NM_000371.4(TTR):c.200G>C (p.Gly67Ala)
|
rs121918090
|
|
NM_000371.4(TTR):c.205A>G (p.Thr69Ala)
|
rs121918081
|
|
NM_000371.4(TTR):c.209G>T (p.Ser70Ile)
|
rs121918080
|
|
NM_000371.4(TTR):c.210T>G (p.Ser70Arg)
|
rs121918076
|
|
NM_000371.4(TTR):c.224T>C (p.Leu75Pro)
|
rs121918079
|
|
NM_000371.4(TTR):c.233T>A (p.Leu78His)
|
rs121918069
|
|
NM_000371.4(TTR):c.233T>G (p.Leu78Arg)
|
rs121918069
|
|
NM_000371.4(TTR):c.241G>A (p.Glu81Lys)
|
rs121918086
|
|
NM_000371.4(TTR):c.250T>C (p.Phe84Leu)
|
rs121918091
|
|
NM_000371.4(TTR):c.270A>C (p.Lys90Asn)
|
rs267607160
|
|
NM_000371.4(TTR):c.272T>C (p.Val91Ala)
|
rs121918084
|
|
NM_000371.4(TTR):c.290C>A (p.Ser97Tyr)
|
rs121918071
|
|
NM_000371.4(TTR):c.311T>G (p.Ile104Ser)
|
rs121918072
|
|
NM_000371.4(TTR):c.325G>C (p.Glu109Gln)
|
rs121918082
|
|
NM_000371.4(TTR):c.350C>G (p.Ala117Gly)
|
rs121918087
|
|
NM_000371.4(TTR):c.379A>G (p.Ile127Val)
|
rs121918089
|
|
NM_000371.4(TTR):c.391C>A (p.Leu131Met)
|
rs121918073
|
|
NM_000371.4(TTR):c.401A>G (p.Tyr134Cys)
|
rs121918075
|
|
NM_000371.4(TTR):c.421GTC[1] (p.Val142del)
|
rs121918096
|
|
NM_000371.4(TTR):c.95T>C (p.Leu32Pro)
|
rs121918094
|
|
NM_000432.4(MYL2):c.52T>C (p.Phe18Leu)
|
rs104894370
|
|
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys)
|
rs104894368
|
|
NM_001005242.3(PKP2):c.2071C>T (p.Arg691Ter)
|
rs121434421
|
|
NM_001005741.2(GBA1):c.[1448T>C;1483G>C;1497G>C]
|
|
|
NM_001005741.2(GBA1):c.[535G>C;c.1093G>A]
|
|
|
NM_001008215.3(COA5):c.157G>C (p.Ala53Pro)
|
rs387907099
|
|
NM_001015048.3(BAG5):c.1168C>T (p.Arg390Ter)
|
rs182208325
|
|
NM_001015048.3(BAG5):c.18dup (p.His7fs)
|
rs2076070300
|
|
NM_001015048.3(BAG5):c.589C>T (p.Arg197Ter)
|
rs906014476
|
|
NM_001018005.2(TPM1):c.118G>A (p.Glu40Lys)
|
rs104894501
|
|
NM_001018005.2(TPM1):c.160G>A (p.Glu54Lys)
|
rs104894505
|
|
NM_001018005.2(TPM1):c.284T>C (p.Val95Ala)
|
rs104894504
|
|
NM_001018005.2(TPM1):c.337C>G (p.Leu113Val)
|
rs397516369
|
|
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn)
|
rs397516373
|
|
NM_001018005.2(TPM1):c.539A>G (p.Glu180Gly)
|
rs104894502
|
|
NM_001018005.2(TPM1):c.574G>A (p.Glu192Lys)
|
rs199476315
|
|
NM_001018005.2(TPM1):c.742A>G (p.Lys248Glu)
|
rs199476319
|
|
NM_001035.3(RYR2):c.12312C>G (p.Asn4104Lys)
|
rs121918599
|
|
NM_001035.3(RYR2):c.12602A>G (p.Gln4201Arg)
|
rs121918605
|
|
NM_001035.3(RYR2):c.1298T>C (p.Leu433Pro)
|
rs121918602
|
|
NM_001035.3(RYR2):c.13489C>T (p.Arg4497Cys)
|
rs121918600
|
|
NM_001035.3(RYR2):c.13957G>T (p.Val4653Phe)
|
rs121918604
|
|
NM_001035.3(RYR2):c.169-198_273+820del
|
|
|
NM_001035.3(RYR2):c.6737C>T (p.Ser2246Leu)
|
rs121918597
|
|
NM_001035.3(RYR2):c.6982C>T (p.Pro2328Ser)
|
rs121918603
|
|
NM_001035.3(RYR2):c.7157A>T (p.Asn2386Ile)
|
rs121918601
|
|
NM_001035.3(RYR2):c.7422G>C (p.Arg2474Ser)
|
rs121918598
|
|
NM_001042475.3(CEP85L):c.1020+17310T>C
|
rs920627366
|
|
NM_001079802.2(FKTN):c.1073A>C (p.Gln358Pro)
|
rs119463993
|
|
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)
|
rs398123555
|
|
NM_001079802.2(FKTN):c.1363del (p.Asp455fs)
|
rs587777814
|
|
NM_001079802.2(FKTN):c.340G>A (p.Ala114Thr)
|
rs119463995
|
|
NM_001079802.2(FKTN):c.527T>C (p.Phe176Ser)
|
rs119463996
|
|
NM_001079802.2(FKTN):c.536G>C (p.Arg179Thr)
|
rs119463994
|
|
NM_001081560.3(DMPK):c.*224CTG[51_?]
|
|
|
NM_001085049.3(MRAS):c.203C>T (p.Thr68Ile)
|
rs1576387876
|
|
NM_001085049.3(MRAS):c.212A>G (p.Gln71Arg)
|
rs1576387885
|
|
NM_001085049.3(MRAS):c.68G>T (p.Gly23Val)
|
rs1576359216
|
|
NM_001103.4(ACTN2):c.1883A>G (p.Glu628Gly)
|
rs786204951
|
|
NM_001103.4(ACTN2):c.2276G>C (p.Arg759Thr)
|
rs786204950
|
|
NM_001103.4(ACTN2):c.332G>T (p.Gly111Val)
|
rs786204949
|
|
NM_001103.4(ACTN2):c.355G>A (p.Ala119Thr)
|
rs727502886
|
|
NM_001103.4(ACTN2):c.683T>C (p.Met228Thr)
|
rs786205144
|
|
NM_001122630.2(CDKN1C):c.106C>T (p.Gln36Ter)
|
rs137852766
|
|
NM_001122630.2(CDKN1C):c.277_278delinsG (p.Leu93fs)
|
rs387906399
|
|
NM_001122630.2(CDKN1C):c.707C>A (p.Ser236Ter)
|
rs104894200
|
|
NM_001122630.2(CDKN1C):c.793delinsAG (p.Phe265fs)
|
rs2133780364
|
|
NM_001122630.2(CDKN1C):c.812C>A (p.Ser271Ter)
|
rs267606716
|
|
NM_001122630.2(CDKN1C):c.812C>G (p.Ser271Ter)
|
rs267606716
|
|
NM_001134363.3(RBM20):c.1906C>A (p.Arg636Ser)
|
rs267607002
|
|
NM_001134363.3(RBM20):c.1909A>G (p.Ser637Gly)
|
rs267607005
|
|
NM_001134363.3(RBM20):c.1913C>T (p.Pro638Leu)
|
rs267607003
|
|
NM_001159699.2(FHL1):c.413G>C (p.Trp138Ser)
|
rs122458140
|
|
NM_001159699.2(FHL1):c.428_430dup (p.Phe143_Thr144insIle)
|
rs1603271580
|
|
NM_001159699.2(FHL1):c.673T>C (p.Cys225Arg)
|
rs122459149
|
|
NM_001159699.2(FHL1):c.720C>G (p.Cys240Trp)
|
rs122458141
|
|
NM_001159699.2(FHL1):c.736+1G>A
|
rs786200914
|
|
NM_001159699.2(FHL1):c.865dup (p.Cys289fs)
|
rs1603273697
|
|
NM_001159699.2(FHL1):c.889T>G (p.Ter297Glu)
|
rs122459148
|
|
NM_001159702.3(FHL1):c.838G>A (p.Val280Met)
|
rs267606811
|
|
NM_001161403.3(LIMS2):c.968T>C (p.Leu323Pro)
|
rs869025562
|
|
NM_001161404.1(LIMS2):c.[261C>G;275C>T]
|
|
|
NM_001206641.3(COA6):c.267G>C (p.Trp89Cys)
|
rs1558123786
|
|
NM_001206641.3(COA6):c.286T>C (p.Trp96Arg)
|
rs875989827
|
|
NM_001267550.2(TTN):c.105528_105535del (p.Gln35176fs)
|
rs199469665
|
|
NM_001267550.2(TTN):c.13108C>T (p.Gln4370Ter)
|
rs267607158
|
|
NM_001267550.2(TTN):c.2219G>T (p.Arg740Leu)
|
rs28933405
|
|
NM_001267550.2(TTN):c.2228C>T (p.Ala743Val)
|
rs267607157
|
|
NM_001267550.2(TTN):c.2926T>C (p.Trp976Arg)
|
rs267607155
|
|
NM_001267550.2(TTN):c.9163+1G>C
|
rs1060500549
|
|
NM_001276345.2(TNNT2):c.266T>A (p.Ile89Asn)
|
rs121964855
|
|
NM_001276345.2(TNNT2):c.316G>A (p.Glu106Lys)
|
rs869312881
|
|
NM_001276345.2(TNNT2):c.316_318del (p.Glu106del)
|
rs727504277
|
|
NM_001276345.2(TNNT2):c.358T>A (p.Phe120Ile)
|
rs121964858
|
|
NM_001276345.2(TNNT2):c.421C>T (p.Arg141Trp)
|
rs74315380
|
|
NM_001276345.2(TNNT2):c.451C>T (p.Arg151Trp)
|
rs74315379
|
|
NM_001276345.2(TNNT2):c.644G>T (p.Arg215Leu)
|
rs121964860
|
|
NM_001276345.2(TNNT2):c.650AGA[3] (p.Lys220del)
|
rs45578238
|
|
NM_001276345.2(TNNT2):c.838G>A (p.Asp280Asn)
|
rs121964861
|
|
NM_001276345.2(TNNT2):c.851+1G>A
|
rs111377893
|
|
NM_001281740.3(FHOD3):c.1580_1582del (p.Ser527del)
|
rs1205890585
|
|
NM_001281740.3:c.1836-1527_2022-2042del
|
|
|
NM_001368067.1(LDB3):c.383A>T (p.Lys128Met)
|
rs121908339
|
|
NM_001393392.1(AKR1C2):c.235A>G (p.Ile79Val)
|
rs387906750
|
|
NM_001393392.1(AKR1C2):c.270T>G (p.His90Gln)
|
rs797044460
|
|
NM_001393392.1(AKR1C2):c.666T>G (p.His222Gln)
|
rs13222
|
|
NM_001393392.1(AKR1C2):c.899A>C (p.Asn300Thr)
|
rs387906751
|
|
NM_001458.5(FLNC):c.368T>C (p.Val123Ala)
|
rs1562991002
|
|
NM_001458.5(FLNC):c.4127+1del
|
|
|
NM_001458.5(FLNC):c.4615G>A (p.Ala1539Thr)
|
rs1562999443
|
|
NM_001458.5(FLNC):c.4927+1del
|
|
|
NM_001458.5(FLNC):c.5669-1del
|
rs1563001548
|
|
NM_001458.5(FLNC):c.6478A>T (p.Ile2160Phe)
|
rs879255640
|
|
NM_001458.5(FLNC):c.6565G>T (p.Glu2189Ter)
|
|
|
NM_001458.5(FLNC):c.6943C>A (p.His2315Asn)
|
rs1563003848
|
|
NM_001458.5(FLNC):c.7251+1G>A
|
rs1554401581
|
|
NM_001458.5(FLNC):c.8107del (p.Asp2703fs)
|
rs1563006160
|
|
NM_001792.5(CDH2):c.1219G>A (p.Asp407Asn)
|
rs568089577
|
|
NM_001792.5(CDH2):c.686A>C (p.Gln229Pro)
|
rs965753331
|
|
NM_001818.5(AKR1C4):c.85-106G>T
|
rs398122815
|
|
NM_001927.4(DES):c.1009G>C (p.Ala337Pro)
|
rs59962885
|
|
NM_001927.4(DES):c.1024A>G (p.Asn342Asp)
|
rs267607482
|
|
NM_001927.4(DES):c.1034T>C (p.Leu345Pro)
|
rs57639980
|
|
NM_001927.4(DES):c.1076_1084del (p.Glu359_Ser361del)
|
rs58409037
|
|
NM_001927.4(DES):c.1078G>C (p.Ala360Pro)
|
rs121913000
|
|
NM_001927.4(DES):c.1094ACA[1] (p.Asn366del)
|
rs58687088
|
|
NM_001927.4(DES):c.1154T>C (p.Leu385Pro)
|
rs57955682
|
|
NM_001927.4(DES):c.1166A>C (p.Gln389Pro)
|
rs121913004
|
|
NM_001927.4(DES):c.1178A>T (p.Asn393Ile)
|
rs121913001
|
|
NM_001927.4(DES):c.1216C>T (p.Arg406Trp)
|
rs121913003
|
|
NM_001927.4(DES):c.1255C>T (p.Pro419Ser)
|
rs62635763
|
|
NM_001927.4(DES):c.1289-2A>G
|
rs398122940
|
|
NM_001927.4(DES):c.1325C>T (p.Thr442Ile)
|
rs121913005
|
|
NM_001927.4(DES):c.1353C>G (p.Ile451Met)
|
rs121913002
|
|
NM_001927.4(DES):c.38C>T (p.Ser13Phe)
|
rs62636495
|
|
NM_001927.4(DES):c.521_541del (p.Ala174_Arg180del)
|
rs60538473
|
|
NM_001927.4(DES):c.640-1G>A
|
rs267607484
|
|
NM_001927.4(DES):c.720_722del (p.Lys241del)
|
rs2125167652
|
|
NM_001927.4(DES):c.735+3A>G
|
rs267607483
|
|
NM_001943.5(DSG2):c.146G>A (p.Arg49His)
|
rs121913006
|
|
NM_001943.5(DSG2):c.1880-2A>G
|
rs397514038
|
|
NM_001943.5(DSG2):c.2434G>T (p.Gly812Cys)
|
rs121913010
|
|
NM_001943.5(DSG2):c.797A>G (p.Asn266Ser)
|
rs121913011
|
|
NM_001943.5(DSG2):c.918G>A (p.Trp306Ter)
|
rs121913007
|
|
NM_001985.3(ETFB):c.491G>A (p.Arg164Gln)
|
rs104894677
|
|
NM_001985.3(ETFB):c.597+1G>C
|
rs2123572141
|
|
NM_002018.4(FLII):c.1360C>T (p.Gln454Ter)
|
|
|
NM_002018.4(FLII):c.2020C>G (p.Leu674Val)
|
|
|
NM_002018.4(FLII):c.3502C>T (p.Arg1168Trp)
|
|
|
NM_002230.4(JUP):c.113GCA[3] (p.Ser39dup)
|
rs113994176
|
|
NM_002230.4(JUP):c.1615C>T (p.Gln539Ter)
|
rs797046139
|
|
NM_002230.4(JUP):c.2038_2039del (p.Trp680fs)
|
rs113994177
|
|
NM_002230.4(JUP):c.468G>A (p.Pro156=)
|
rs886037753
|
|
NM_002230.4(JUP):c.71C>A (p.Ser24Ter)
|
rs782460555
|
|
NM_002471.4(MYH6):c.2489C>T (p.Pro830Leu)
|
rs267606906
|
|
NM_002524.5(NRAS):c.149C>T (p.Thr50Ile)
|
rs267606921
|
|
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp)
|
rs121434596
|
|
NM_002633.3(PGM1):c.112A>T (p.Asn38Tyr)
|
rs587777402
|
|
NM_002633.3(PGM1):c.1145-1G>C
|
rs587776801
|
|
NM_002633.3(PGM1):c.1378_1379del (p.Ala461fs)
|
rs763428801
|
|
NM_002633.3(PGM1):c.157_158delinsG (p.Gln53fs)
|
rs1647935062
|
|
NM_002633.3(PGM1):c.184G>C (p.Asp62His)
|
rs587777403
|
|
NM_002633.3(PGM1):c.361G>C (p.Gly121Arg)
|
rs398122912
|
|
NM_002633.3(PGM1):c.661del (p.Arg221fs)
|
rs587777405
|
|
NM_002633.3(PGM1):c.87_88del (p.Phe29fs)
|
rs1570463842
|
|
NM_002635.4(SLC25A3):c.596T>G (p.Leu199Trp)
|
rs2097595072
|
|
NM_002635.4(SLC25A3):c.883_895delinsCAGATAC (p.Gly295_Ser299delinsGlnIlePro)
|
rs2097597579
|
|
NM_002667.5(PLN):c.25C>T (p.Arg9Cys)
|
rs111033559
|
|
NM_002667.5(PLN):c.37AGA[1] (p.Arg14del)
|
rs397516784
|
|
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)
|
rs886037952
|
|
NM_002709.3(PPP1CB):c.166G>C (p.Ala56Pro)
|
rs1114167429
|
|
NM_002709.3(PPP1CB):c.548A>C (p.Glu183Ala)
|
rs886037954
|
|
NM_002709.3(PPP1CB):c.548A>T (p.Glu183Val)
|
rs886037954
|
|
NM_002709.3(PPP1CB):c.820G>A (p.Glu274Lys)
|
rs886037955
|
|
NM_002745.5(MAPK1):c.221T>A (p.Ile74Asn)
|
rs2069154121
|
|
NM_002745.5(MAPK1):c.521C>T (p.Ala174Val)
|
rs2069052012
|
|
NM_002745.5(MAPK1):c.952G>A (p.Asp318Asn)
|
rs2068716940
|
|
NM_002745.5(MAPK1):c.953A>G (p.Asp318Gly)
|
rs2068716907
|
|
NM_002755.4(MAP2K1):c.158T>C (p.Phe53Ser)
|
rs121908594
|
|
NM_002755.4(MAP2K1):c.175_177del (p.Lys59del)
|
rs869025339
|
|
NM_002755.4(MAP2K1):c.371C>A (p.Pro124Gln)
|
rs397516792
|
|
NM_002755.4(MAP2K1):c.383G>T (p.Gly128Val)
|
rs121908596
|
|
NM_002755.4(MAP2K1):c.389A>G (p.Tyr130Cys)
|
rs121908595
|
|
NM_002834.5(PTPN11):c.1232C>T (p.Thr411Met)
|
rs121918467
|
|
NM_002834.5(PTPN11):c.1381G>A (p.Ala461Thr)
|
rs121918468
|
|
NM_002834.5(PTPN11):c.1391G>C (p.Gly464Ala)
|
rs121918469
|
|
NM_002834.5(PTPN11):c.1504T>A (p.Ser502Thr)
|
rs121918458
|
|
NM_002834.5(PTPN11):c.1529A>C (p.Gln510Pro)
|
rs121918470
|
|
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg)
|
rs121918470
|
|
NM_002834.5(PTPN11):c.179_181del (p.Gly60del)
|
rs80338836
|
|
NM_002834.5(PTPN11):c.182A>G (p.Asp61Gly)
|
rs121918461
|
|
NM_002834.5(PTPN11):c.184T>G (p.Tyr62Asp)
|
rs121918460
|
|
NM_002834.5(PTPN11):c.214G>T (p.Ala72Ser)
|
rs121918453
|
|
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly)
|
rs121918454
|
|
NM_002834.5(PTPN11):c.218C>T (p.Thr73Ile)
|
rs121918462
|
|
NM_002834.5(PTPN11):c.236A>G (p.Gln79Arg)
|
rs121918466
|
|
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile)
|
rs267606990
|
|
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys)
|
rs121918456
|
|
NM_002834.5(PTPN11):c.854T>C (p.Phe285Ser)
|
rs121918463
|
|
NM_002834.5(PTPN11):c.923A>G (p.Asn308Ser)
|
rs121918455
|
|
NM_002880.4(RAF1):c.1472C>G (p.Thr491Arg)
|
rs80338799
|
|
NM_002880.4(RAF1):c.1808T>C (p.Leu603Pro)
|
rs587777586
|
|
NM_002880.4(RAF1):c.1837C>G (p.Leu613Val)
|
rs80338797
|
|
NM_002880.4(RAF1):c.770C>T (p.Ser257Leu)
|
rs80338796
|
|
NM_002880.4(RAF1):c.781C>T (p.Pro261Ser)
|
rs121434594
|
|
NM_003140.3(SRY):c.12T>A (p.Tyr4Ter)
|
rs104894975
|
|
NM_003140.3(SRY):c.178G>C (p.Val60Leu)
|
rs104894957
|
|
NM_003140.3(SRY):c.192G>A (p.Met64Ile)
|
rs104894969
|
|
NM_003140.3(SRY):c.203T>C (p.Ile68Thr)
|
rs104894968
|
|
NM_003140.3(SRY):c.209G>A (p.Trp70Ter)
|
rs104894965
|
|
NM_003140.3(SRY):c.274A>T (p.Lys92Ter)
|
rs104894970
|
|
NM_003140.3(SRY):c.277C>T (p.Gln93Ter)
|
rs104894958
|
|
NM_003140.3(SRY):c.283G>C (p.Gly95Arg)
|
rs104894974
|
|
NM_003140.3(SRY):c.284G>A (p.Gly95Glu)
|
rs104894972
|
|
NM_003140.3(SRY):c.317A>T (p.Lys106Ile)
|
rs104894964
|
|
NM_003140.3(SRY):c.320G>A (p.Trp107Ter)
|
rs104894967
|
|
NM_003140.3(SRY):c.324del (p.Phe109fs)
|
rs606231179
|
|
NM_003140.3(SRY):c.326T>C (p.Phe109Ser)
|
rs104894956
|
|
NM_003140.3(SRY):c.337G>A (p.Ala113Thr)
|
rs104894966
|
|
NM_003140.3(SRY):c.364_367del (p.Glu122fs)
|
rs606231178
|
|
NM_003140.3(SRY):c.380A>T (p.Tyr127Phe)
|
rs104894973
|
|
NM_003140.3(SRY):c.397C>T (p.Arg133Trp)
|
rs104894976
|
|
NM_003140.3(SRY):c.4C>T (p.Gln2Ter)
|
rs104894977
|
|
NM_003280.3(TNNC1):c.100G>C (p.Gly34Arg)
|
|
|
NM_003280.3(TNNC1):c.12C>G (p.Ile4Met)
|
|
|
NM_003280.3(TNNC1):c.251G>A (p.Cys84Tyr)
|
rs267607126
|
|
NM_003280.3(TNNC1):c.309G>A (p.Met103Ile)
|
rs2153229926
|
|
NM_003280.3(TNNC1):c.476G>A (p.Gly159Asp)
|
rs104893823
|
|
NM_003280.3(TNNC1):c.91G>T (p.Ala31Ser)
|
rs397514616
|
|
NM_003319.4(TTN):c.43495_43496dup (p.Thr14500fs)
|
rs2154172276
|
|
NM_003476.5(CSRP3):c.160_164delinsAGGGG (p.Ser54_Glu55delinsArgGly)
|
rs281865416
|
|
NM_003476.5(CSRP3):c.172T>G (p.Cys58Gly)
|
rs104894204
|
|
NM_003673.4(TCAP):c.410C>T (p.Thr137Ile)
|
rs773317399
|
|
NM_004006.3(DMD):c.31+1G>T
|
rs398123923
|
|
NM_004006.3(DMD):c.835A>G (p.Thr279Ala)
|
rs128627255
|
|
NM_004100.5(EYA4):c.724_805-957del
|
|
|
NM_004168.4(SDHA):c.1664G>A (p.Gly555Glu)
|
rs137852768
|
|
NM_004281.4(BAG3):c.1385T>C (p.Leu462Pro)
|
rs397514507
|
|
NM_004281.4(BAG3):c.1430G>A (p.Arg477His)
|
rs387906876
|
|
NM_004281.4(BAG3):c.652del (p.Arg218fs)
|
rs1589630173
|
|
NM_004317.4(GET3):c.488T>C (p.Val163Ala)
|
|
|
NM_004317.4(GET3):c.[867C>G;913C>T]
|
|
|
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu)
|
rs121913355
|
|
NM_004333.6(BRAF):c.1455G>C (p.Leu485Phe)
|
rs180177036
|
|
NM_004333.6(BRAF):c.1495A>G (p.Lys499Glu)
|
rs180177037
|
|
NM_004333.6(BRAF):c.1501G>A (p.Glu501Lys)
|
rs180177038
|
|
NM_004333.6(BRAF):c.1502A>G (p.Glu501Gly)
|
rs180177039
|
|
NM_004333.6(BRAF):c.1593G>C (p.Trp531Cys)
|
rs606231228
|
|
NM_004333.6(BRAF):c.1600G>C (p.Gly534Arg)
|
rs180177041
|
|
NM_004333.6(BRAF):c.1741A>G (p.Asn581Asp)
|
rs180177040
|
|
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val)
|
rs121913369
|
|
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)
|
rs180177042
|
|
NM_004333.6(BRAF):c.721A>C (p.Thr241Pro)
|
rs387906661
|
|
NM_004333.6(BRAF):c.722C>G (p.Thr241Arg)
|
rs387906660
|
|
NM_004333.6(BRAF):c.722C>T (p.Thr241Met)
|
rs387906660
|
|
NM_004333.6(BRAF):c.735A>C (p.Leu245Phe)
|
rs397507466
|
|
NM_004333.6(BRAF):c.736G>C (p.Ala246Pro)
|
rs180177034
|
|
NM_004333.6(BRAF):c.770A>G (p.Gln257Arg)
|
rs180177035
|
|
NM_004415.4(DSP):c.8501G>A (p.Arg2834His)
|
rs121912999
|
|
NM_004415.4(DSP):c.897C>G (p.Ser299Arg)
|
rs121912992
|
|
NM_004453.4(ETFDH):c.2T>C (p.Met1Thr)
|
rs121964953
|
|
NM_004453.4(ETFDH):c.36del (p.Tyr13fs)
|
rs2150304327
|
|
NM_004453.4(ETFDH):c.380T>A (p.Leu127His)
|
rs121964956
|
|
NM_004453.4(ETFDH):c.524G>A (p.Arg175His)
|
rs121964955
|
|
NM_004453.4(ETFDH):c.524G>T (p.Arg175Leu)
|
rs121964955
|
|
NM_004959.5(NR5A1):c.104_105delinsAA (p.Gly35Glu)
|
rs121918654
|
|
NM_004959.5(NR5A1):c.1058_1065del (p.Glu353fs)
|
|
|
NM_004959.5(NR5A1):c.1310T>A (p.Leu437Gln)
|
rs104894120
|
|
NM_004959.5(NR5A1):c.18del (p.Asp6fs)
|
rs606231205
|
|
NM_004959.5(NR5A1):c.234G>A (p.Met78Ile)
|
rs104894125
|
|
NM_004959.5(NR5A1):c.271G>A (p.Gly91Ser)
|
rs104894126
|
|
NM_004959.5(NR5A1):c.274C>T (p.Arg92Trp)
|
rs886039769
|
|
NM_004959.5(NR5A1):c.275G>A (p.Arg92Gln)
|
rs104894119
|
|
NM_004959.5(NR5A1):c.390del (p.Pro131fs)
|
rs606231207
|
|
NM_004959.5(NR5A1):c.3G>A (p.Met1Ile)
|
rs121918656
|
|
NM_004959.5(NR5A1):c.43G>A (p.Val15Met)
|
rs104894124
|
|
NM_004959.5(NR5A1):c.48C>A (p.Cys16Ter)
|
rs104894123
|
|
NM_004959.5(NR5A1):c.666del (p.Asn222fs)
|
rs606231206
|
|
NM_004959.5(NR5A1):c.877G>A (p.Asp293Asn)
|
rs121918655
|
|
NM_004985.5(KRAS):c.101C>G (p.Pro34Arg)
|
rs104894366
|
|
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu)
|
rs193929331
|
|
NM_004985.5(KRAS):c.173C>T (p.Thr58Ile)
|
rs104894364
|
|
NM_004985.5(KRAS):c.178G>C (p.Gly60Arg)
|
rs104894359
|
|
NM_004985.5(KRAS):c.40G>A (p.Val14Ile)
|
rs104894365
|
|
NM_004985.5(KRAS):c.458A>T (p.Asp153Val)
|
rs104894360
|
|
NM_004999.4(MYO6):c.1325G>A (p.Cys442Tyr)
|
rs121912557
|
|
NM_004999.4(MYO6):c.2417-1758T>G
|
rs1562283089
|
|
NM_005061.3(RPL3L):c.481C>T (p.Arg161Trp)
|
rs143544112
|
|
NM_005061.3(RPL3L):c.923A>T (p.Asp308Val)
|
rs2150861462
|
|
NM_005138.3(SCO2):c.107G>A (p.Trp36Ter)
|
rs121908508
|
|
NM_005138.3(SCO2):c.179_188dup (p.Ile63fs)
|
rs1467767014
|
|
NM_005138.3(SCO2):c.398G>A (p.Cys133Tyr)
|
rs28937868
|
|
NM_005138.3(SCO2):c.674C>T (p.Ser225Phe)
|
rs80358232
|
|
NM_005159.5(ACTC1):c.1088A>G (p.Glu363Gly)
|
rs121912674
|
|
NM_005159.5(ACTC1):c.496C>G (p.Pro166Ala)
|
rs267606628
|
|
NM_005159.5(ACTC1):c.889G>T (p.Ala297Ser)
|
rs121912675
|
|
NM_005159.5(ACTC1):c.997G>C (p.Ala333Pro)
|
rs267606629
|
|
NM_005189.3(CBX2):c.1328G>C (p.Arg443Pro)
|
rs121908256
|
|
NM_005189.3(CBX2):c.293C>T (p.Pro98Leu)
|
rs121908255
|
|
NM_005343.4(HRAS):c.108_110dup (p.Glu37dup)
|
rs398122809
|
|
NM_005343.4(HRAS):c.110_111+1dup
|
rs398122808
|
|
NM_005343.4(HRAS):c.173C>T (p.Thr58Ile)
|
rs121917758
|
|
NM_005343.4(HRAS):c.187G>A (p.Glu63Lys)
|
rs121917756
|
|
NM_005343.4(HRAS):c.187_207dup (p.Glu63_Asp69dup)
|
rs587777239
|
|
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser)
|
rs104894229
|
|
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys)
|
rs104894229
|
|
NM_005343.4(HRAS):c.350A>G (p.Lys117Arg)
|
rs104894227
|
|
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala)
|
rs104894230
|
|
NM_005343.4(HRAS):c.35G>T (p.Gly12Val)
|
rs104894230
|
|
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys)
|
rs104894228
|
|
NM_005343.4(HRAS):c.38G>A (p.Gly13Asp)
|
rs104894226
|
|
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr)
|
rs104894231
|
|
NM_005343.4(HRAS):c.437C>T (p.Ala146Val)
|
rs121917759
|
|
NM_005343.4(HRAS):c.64C>A (p.Gln22Lys)
|
rs121917757
|
|
NM_005572.4(LMNA):c.1711C>A (p.Arg571Ser)
|
rs80338938
|
|
NM_005633.4(SOS1):c.1294T>C (p.Trp432Arg)
|
rs267607080
|
|
NM_005633.4(SOS1):c.1654A>G (p.Arg552Gly)
|
rs137852814
|
|
NM_005633.4(SOS1):c.1656G>C (p.Arg552Ser)
|
rs267607079
|
|
NM_005633.4(SOS1):c.3134C>G (p.Pro1045Arg)
|
rs1668859370
|
|
NM_005633.4(SOS1):c.797C>A (p.Thr266Lys)
|
rs137852812
|
|
NM_005633.4(SOS1):c.806T>G (p.Met269Arg)
|
rs137852813
|
|
NM_005733.3(KIF20A):c.1909del (p.Tyr637fs)
|
rs2151233812
|
|
NM_005888.4(SLC25A3):c.215G>A (p.Gly72Glu)
|
rs104894375
|
|
NM_005921.2(MAP3K1):c.1760T>A (p.Leu587His)
|
rs1131692186
|
|
NM_005921.2(MAP3K1):c.1846G>A (p.Gly616Arg)
|
rs143853590
|
|
NM_005921.2(MAP3K1):c.566T>A (p.Leu189Gln)
|
rs387906788
|
|
NM_005921.2(MAP3K1):c.566T>C (p.Leu189Pro)
|
rs387906788
|
|
NM_005921.2(MAP3K1):c.566T>G (p.Leu189Arg)
|
rs387906788
|
|
NM_005921.2(MAP3K1):c.634-8T>A
|
rs1131692053
|
|
NM_006366.3(CAP2):c.1288del (p.Cys430fs)
|
|
|
NM_006366.3(CAP2):c.636+1G>A
|
|
|
NM_006366.3(CAP2):c.948T>G (p.Tyr316Ter)
|
|
|
NM_006587.4(CORIN):c.684dup (p.Met229fs)
|
rs756399499
|
|
NM_006731.2(FKTN):c.*4392_*4393ins[AB185332.1]
|
|
|
NM_006767.4(LZTR1):c.2264G>A (p.Arg755Gln)
|
rs762834512
|
|
NM_006767.4(LZTR1):c.361C>G (p.His121Asp)
|
rs1569154492
|
|
NM_006767.4(LZTR1):c.740G>A (p.Ser247Asn)
|
rs797045166
|
|
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)
|
rs869320686
|
|
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly)
|
rs672601334
|
|
NM_006912.6(RIT1):c.242A>G (p.Glu81Gly)
|
rs869025193
|
|
NM_006912.6(RIT1):c.244T>G (p.Phe82Val)
|
rs869025194
|
|
NM_006912.6(RIT1):c.246T>G (p.Phe82Leu)
|
rs730881014
|
|
NM_006912.6(RIT1):c.270G>C (p.Met90Ile)
|
rs483352822
|
|
NM_006912.6(RIT1):c.284G>C (p.Gly95Ala)
|
rs672601335
|
|
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser)
|
rs869320687
|
|
NM_006939.4(SOS2):c.800T>A (p.Met267Lys)
|
rs797045167
|
|
NM_007078.3(LDB3):c.1035C>G (p.Ile345Met)
|
rs121908336
|
|
NM_007146.3(VEZF1):c.490A>T (p.Lys164Ter)
|
|
|
NM_007373.4(SHOC2):c.519G>A (p.Met173Ile)
|
rs730881020
|
|
NM_007373.4(SHOC2):c.807_808delinsTT (p.Gln269_His270delinsHisTyr)
|
rs1848064627
|
|
NM_012082.4(ZFPM2):c.1206T>A (p.Ser402Arg)
|
rs606231252
|
|
NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu)
|
rs113954997
|
|
NM_012250.6(RRAS2):c.70_78dup (p.Gly24_Gly26dup)
|
rs1591495767
|
|
NM_013266.4(CTNNA3):c.2293TTG[1] (p.Leu766del)
|
rs587777135
|
|
NM_013266.4(CTNNA3):c.281T>A (p.Val94Asp)
|
rs587777134
|
|
NM_014000.3(VCL):c.2862_2864del (p.Leu955del)
|
rs397517237
|
|
NM_014908.4(DOLK):c.1222C>G (p.His408Asp)
|
rs387907030
|
|
NM_014908.4(DOLK):c.1322A>C (p.Tyr441Ser)
|
rs137853110
|
|
NM_014908.4(DOLK):c.295T>A (p.Cys99Ser)
|
rs137853109
|
|
NM_014908.4(DOLK):c.2T>C (p.Met1Thr)
|
rs587777137
|
|
NM_014908.4(DOLK):c.3G>A (p.Met1Ile)
|
rs1564546510
|
|
NM_014908.4(DOLK):c.912G>T (p.Trp304Cys)
|
rs1564545929
|
|
NM_016203.4(PRKAG2):c.1050_1051insTTA (p.Arg350_Glu351insLeu)
|
rs587776643
|
|
NM_016203.4(PRKAG2):c.1148A>G (p.His383Arg)
|
rs121908988
|
|
NM_016203.4(PRKAG2):c.1151G>C (p.Arg384Thr)
|
rs730882148
|
|
NM_016203.4(PRKAG2):c.1199C>A (p.Thr400Asn)
|
rs28938173
|
|
NM_016203.4(PRKAG2):c.1459T>C (p.Tyr487His)
|
rs267606976
|
|
NM_016203.4(PRKAG2):c.1463A>T (p.Asn488Ile)
|
rs121908989
|
|
NM_016203.4(PRKAG2):c.1516G>C (p.Glu506Gln)
|
rs267606978
|
|
NM_016203.4(PRKAG2):c.1589A>G (p.His530Arg)
|
rs267606977
|
|
NM_016203.4(PRKAG2):c.1592G>A (p.Arg531Gln)
|
rs121908991
|
|
NM_016203.4(PRKAG2):c.1642T>C (p.Ser548Pro)
|
rs267606979
|
|
NM_016599.5(MYOZ2):c.142T>C (p.Ser48Pro)
|
rs199476398
|
|
NM_017644.3(KLHL24):c.1048G>T (p.Glu350Ter)
|
|
|
NM_017644.3(KLHL24):c.917G>A (p.Arg306His)
|
|
|
NM_020297.4(ABCC9):c.4512+744_4512+746delinsAAAT
|
rs869025349
|
|
NM_020297.4(ABCC9):c.4537G>A (p.Ala1513Thr)
|
rs121909304
|
|
NM_020433.5(JPH2):c.1920dup (p.Glu641Ter)
|
rs2145838034
|
|
NM_020433.5(JPH2):c.301A>C (p.Ser101Arg)
|
rs1600482909
|
|
NM_020433.5(JPH2):c.494C>T (p.Ser165Phe)
|
rs387906898
|
|
NM_020778.5(ALPK3):c.3186G>A (p.Trp1062Ter)
|
rs1555435531
|
|
NM_020778.5(ALPK3):c.4688G>A (p.Trp1563Ter)
|
rs1555436118
|
|
NM_021044.4(DHH):c.1086del (p.Leu363fs)
|
rs1592184934
|
|
NM_021044.4(DHH):c.2T>C (p.Met1Thr)
|
rs104894346
|
|
NM_021044.4(DHH):c.304-572_492dup
|
|
|
NM_021044.4(DHH):c.371G>A (p.Arg124Gln)
|
rs1565573892
|
|
NM_021044.4(DHH):c.519G>T (p.Trp173Cys)
|
rs1939296210
|
|
NM_021044.4(DHH):c.554C>A (p.Ser185Ter)
|
rs1939295073
|
|
NM_021167.5(GATAD1):c.304T>C (p.Ser102Pro)
|
rs387907188
|
|
NM_022114.4(PRDM16):c.1573dup (p.Arg525fs)
|
rs886041395
|
|
NM_022114.4(PRDM16):c.2104A>T (p.Lys702Ter)
|
rs397514742
|
|
NM_022114.4(PRDM16):c.2660T>C (p.Leu887Pro)
|
rs202115331
|
|
NM_024334.3(TMEM43):c.1073C>T (p.Ser358Leu)
|
rs63750743
|
|
NM_024334.3(TMEM43):c.253G>A (p.Glu85Lys)
|
rs397514044
|
|
NM_024422.6(DSC2):c.1430del (p.Thr477fs)
|
rs397514041
|
|
NM_024422.6(DSC2):c.2686_2687dup (p.Ala897fs)
|
rs200056085
|
|
NM_024664.4(PPCS):c.320_334del (p.Pro107_Ala111del)
|
rs753011525
|
|
NM_024664.4(PPCS):c.538G>C (p.Ala180Pro)
|
rs1557776329
|
|
NM_024664.4(PPCS):c.698A>T (p.Glu233Val)
|
rs1557778277
|
|
NM_030662.4(MAP2K2):c.169T>G (p.Phe57Val)
|
rs121434498
|
|
NM_030662.4(MAP2K2):c.170T>G (p.Phe57Cys)
|
rs121434497
|
|
NM_030662.4(MAP2K2):c.383C>A (p.Pro128Gln)
|
rs267607230
|
|
NM_030662.4(MAP2K2):c.395G>A (p.Gly132Asp)
|
rs387906800
|
|
NM_030662.4(MAP2K2):c.400T>C (p.Tyr134His)
|
rs121434499
|
|
NM_032578.4(MYPN):c.1585C>T (p.Gln529Ter)
|
rs199476408
|
|
NM_032578.4(MYPN):c.2882C>T (p.Pro961Leu)
|
rs864621995
|
|
NM_032656.4(DHX37):c.1784C>T (p.Ser595Phe)
|
rs1954346640
|
|
NM_032656.4(DHX37):c.2020C>T (p.Arg674Trp)
|
rs1954336272
|
|
NM_032656.4(DHX37):c.2021G>A (p.Arg674Gln)
|
rs1954336215
|
|
NM_032656.4(DHX37):c.911C>T (p.Thr304Met)
|
rs1954619788
|
|
NM_033337.3(CAV3):c.191C>G (p.Thr64Ser)
|
rs121909280
|
|
NM_033360.4(KRAS):c.*22C>G
|
rs104894362
|
|
NM_033360.4(KRAS):c.*9T>G
|
rs104894367
|
|
NM_033360.4(KRAS):c.15A>T (p.Lys5Asn)
|
rs104894361
|
|
NM_033360.4(KRAS):c.178G>A (p.Gly60Ser)
|
rs104894359
|
|
NM_033360.4(KRAS):c.211T>C (p.Tyr71His)
|
rs387907205
|
|
NM_033360.4(KRAS):c.439A>G (p.Lys147Glu)
|
rs387907206
|
|
NM_078470.6(COX15):c.1030T>C (p.Ser344Pro)
|
rs397514662
|
|
NM_144573.4(NEXN):c.1831C>A (p.Pro611Thr)
|
rs137853198
|
|
NM_144573.4(NEXN):c.1946GAG[1] (p.Gly650del)
|
rs397517853
|
|
NM_152594.3(SPRED1):c.1045_1046del (p.Arg349fs)
|
rs1566876941
|
|
NM_152594.3(SPRED1):c.131T>A (p.Val44Asp)
|
rs121434318
|
|
NM_152594.3(SPRED1):c.190C>T (p.Arg64Ter)
|
rs121434315
|
|
NM_152594.3(SPRED1):c.349C>T (p.Arg117Ter)
|
rs121434312
|
|
NM_152594.3(SPRED1):c.423+1G>A
|
rs1566868058
|
|
NM_152594.3(SPRED1):c.637C>T (p.Gln213Ter)
|
rs121434316
|
|
NM_152594.3(SPRED1):c.643C>T (p.Gln215Ter)
|
rs121434314
|
|
NM_152594.3(SPRED1):c.784A>T (p.Arg262Ter)
|
rs121434317
|
|
NM_170707.4(LMNA):c.1072G>A (p.Glu358Lys)
|
rs60458016
|
|
NM_170707.4(LMNA):c.1130G>A (p.Arg377His)
|
rs61672878
|
|
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)
|
rs58932704
|
|
NM_170707.4(LMNA):c.1477C>T (p.Gln493Ter)
|
rs56699480
|
|
NM_170707.4(LMNA):c.1580G>C (p.Arg527Pro)
|
rs57520892
|
|
NM_170707.4(LMNA):c.1589T>C (p.Leu530Pro)
|
rs60934003
|
|
NM_170707.4(LMNA):c.1608+5G>C
|
rs267607539
|
|
NM_170707.4(LMNA):c.1621C>G (p.Arg541Gly)
|
rs56984562
|
|
NM_170707.4(LMNA):c.16C>T (p.Gln6Ter)
|
rs61046466
|
|
NM_170707.4(LMNA):c.178C>G (p.Arg60Gly)
|
rs28928900
|
|
NM_170707.4(LMNA):c.254T>G (p.Leu85Arg)
|
rs28933090
|
|
NM_170707.4(LMNA):c.29C>T (p.Thr10Ile)
|
rs57077886
|
|
NM_170707.4(LMNA):c.398G>C (p.Arg133Pro)
|
rs60864230
|
|
NM_170707.4(LMNA):c.481G>A (p.Glu161Lys)
|
rs28933093
|
|
NM_170707.4(LMNA):c.585C>G (p.Asn195Lys)
|
rs28933091
|
|
NM_170707.4(LMNA):c.608A>G (p.Glu203Gly)
|
rs28933092
|
|
NM_170707.4(LMNA):c.621GAA[1] (p.Lys208del)
|
rs267607540
|
|
NM_170707.4(LMNA):c.664C>T (p.His222Tyr)
|
rs28928901
|
|
NM_170707.4(LMNA):c.674G>A (p.Arg225Gln)
|
rs199474724
|
|
NM_170707.4(LMNA):c.777T>A (p.Tyr259Ter)
|
rs58048078
|
|
NM_170707.4(LMNA):c.960del (p.Arg321fs)
|
rs56771886
|
|
NM_181784.3(SPRED2):c.1142_1143del (p.Leu381fs)
|
rs2104102138
|
|
NM_181784.3(SPRED2):c.299T>C (p.Leu100Pro)
|
rs2104216988
|
|
NM_182961.4(SYNE1):c.24284G>A (p.Arg8095His)
|
rs119103246
|
|
NM_182961.4(SYNE1):c.25159G>T (p.Val8387Leu)
|
rs119103247
|
|
NM_207163.3(LMOD2):c.1193G>A (p.Trp398Ter)
|
rs757677006
|
|
NM_207163.3(LMOD2):c.1243_1244del (p.Leu415fs)
|
rs1175931250
|
|
NM_207163.3(LMOD2):c.273+1G>A
|
rs2116731333
|
|
NR_002196.1(H19):n.-7080_-1781del
|
|
|
PGM1, ARG521TER
|
|
|
SGCA, TYR134TER
|
|
|
TTN:c.106668delA (p.Lys35556Argfs)
|
rs587776772
|
|
m.10197G>A
|
rs267606891
|
|
m.10663T>C
|
rs1556423844
|
|
m.11696G>A
|
rs200873900
|
|
m.12338T>C
|
rs201863060
|
|
m.12848C>T
|
rs267606899
|
|
m.13042G>A
|
rs267606898
|
|
m.13045A>C
|
rs267606895
|
|
m.13708G>A
|
rs28359178
|
|
m.13730G>A
|
rs387906425
|
|
m.14459G>A
|
rs199476105
|
|
m.14482C>A
|
rs199476108
|
|
m.14495A>G
|
rs199476106
|
|
m.14596A>T
|
rs387906424
|
|
m.15257G>A
|
rs41518645
|
|
m.15498G>A
|
rs207460003
|
|
m.15812G>A
|
rs200336777
|
|
m.3249G>A
|
rs199474667
|
|
m.3256C>T
|
rs199474659
|
|
m.3394T>C
|
rs41460449
|
|
m.3697G>A
|
rs199476122
|
|
m.3733G>A
|
rs199476125
|
|
m.4136A>G
|
rs199476121
|
|
m.4160T>C
|
rs199476119
|
|
m.4171C>A
|
rs28616230
|
|
m.4216T>C
|
rs1599988
|
|
m.4295A>G
|
rs121434467
|
|
m.4300A>G
|
rs121434470
|
|
m.4640C>A
|
rs387906426
|
|
m.4917A>G
|
rs28357980
|
|
m.5244G>A
|
rs199476115
|
|
m.5877C>T
|
rs118203893
|
|
m.5888delT
|
rs118203892
|
|
m.611G>A
|
rs118203886
|
|
m.8344A>G
|
rs118192098
|
|
m.8356T>C
|
rs118192099
|
|
m.8361G>A
|
rs118192104
|
|
m.9101T>C
|
rs199476134
|
|
m.9438G>A
|
rs267606611
|
|
m.9804G>A
|
rs200613617
|
|
m.9997T>C
|
rs121434475
|
|
nsv513807
|
|
|