NM_000238.4(KCNH2):c.2738C>T (p.Ala913Val)
|
rs77331749
|
0.00056
|
NM_001395891.1(CLASP1):c.196-562G>A
|
rs370715569
|
0.00025
|
NM_000393.5(COL5A2):c.322+1G>C
|
rs770598613
|
0.00014
|
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro)
|
rs144601090
|
0.00011
|
NM_000257.4(MYH7):c.5329G>A (p.Ala1777Thr)
|
rs200939753
|
0.00009
|
NM_000335.5(SCN5A):c.4975A>G (p.Ile1659Val)
|
rs199473625
|
0.00007
|
NM_000283.4(PDE6B):c.811G>A (p.Glu271Lys)
|
rs374156343
|
0.00006
|
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His)
|
rs563762318
|
0.00006
|
NM_000257.4(MYH7):c.5243G>A (p.Cys1748Tyr)
|
rs200303340
|
0.00005
|
NM_006269.2(RP1):c.121T>C (p.Tyr41His)
|
rs746359399
|
0.00004
|
NM_138694.4(PKHD1):c.3089C>T (p.Ala1030Val)
|
rs777976050
|
0.00004
|
NM_170707.4(LMNA):c.1189C>T (p.Arg397Cys)
|
rs374726751
|
0.00004
|
NM_000138.5(FBN1):c.4405C>T (p.Arg1469Cys)
|
rs587782946
|
0.00003
|
NM_000257.4(MYH7):c.1325G>A (p.Arg442His)
|
rs730880870
|
0.00003
|
NM_001770.6(CD19):c.1635del (p.Gly546fs)
|
rs774006181
|
0.00003
|
NM_201253.3(CRB1):c.2308G>A (p.Gly770Ser)
|
rs767648174
|
0.00003
|
NM_000257.4(MYH7):c.958G>A (p.Val320Met)
|
rs376897125
|
0.00002
|
NM_000554.6(CRX):c.268C>T (p.Arg90Trp)
|
rs104894673
|
0.00002
|
NM_001267550.2(TTN):c.7057+2dup
|
rs765019023
|
0.00002
|
NM_006767.4(LZTR1):c.2463dup (p.Asp822fs)
|
rs781251567
|
0.00002
|
NM_000180.4(GUCY2D):c.380C>T (p.Pro127Leu)
|
rs878853343
|
0.00001
|
NM_000257.4(MYH7):c.4145G>A (p.Arg1382Gln)
|
rs727504325
|
0.00001
|
NM_000257.4(MYH7):c.4487A>C (p.Glu1496Ala)
|
rs397516218
|
0.00001
|
NM_001018005.2(TPM1):c.82G>C (p.Asp28His)
|
rs397516391
|
0.00001
|
NM_001035.3(RYR2):c.3271G>A (p.Glu1091Lys)
|
rs730880191
|
0.00001
|
NM_001035.3(RYR2):c.365G>A (p.Arg122His)
|
rs727503396
|
0.00001
|
NM_001267550.2(TTN):c.57769C>T (p.Arg19257Ter)
|
rs794729275
|
0.00001
|
NM_003361.4(UMOD):c.317G>T (p.Cys106Phe)
|
rs398123697
|
0.00001
|
NM_003995.4(NPR2):c.2327G>A (p.Arg776Gln)
|
rs780293535
|
0.00001
|
NM_006231.4(POLE):c.3373C>T (p.Arg1125Ter)
|
rs139603739
|
0.00001
|
NM_022124.6(CDH23):c.2398-1G>T
|
rs751788879
|
0.00001
|
NM_138694.4(PKHD1):c.10058T>G (p.Leu3353Arg)
|
rs777377414
|
0.00001
|
NM_138694.4(PKHD1):c.7717C>T (p.Arg2573Cys)
|
rs752994816
|
0.00001
|
NM_201253.3(CRB1):c.2833G>A (p.Gly945Arg)
|
rs749746650
|
0.00001
|
NM_000090.4(COL3A1):c.1232G>A (p.Gly411Glu)
|
rs886038816
|
|
NM_000138.5(FBN1):c.1379G>A (p.Cys460Tyr)
|
rs1597581001
|
|
NM_000138.5(FBN1):c.3020T>G (p.Leu1007Arg)
|
rs794728200
|
|
NM_000138.5(FBN1):c.3712G>A (p.Asp1238Asn)
|
rs794728208
|
|
NM_000138.5(FBN1):c.6617A>G (p.Asp2206Gly)
|
rs1597522584
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000256.3(MYBPC3):c.1224-19G>A
|
rs587776699
|
|
NM_000256.3(MYBPC3):c.290C>T (p.Ala97Val)
|
rs397515993
|
|
NM_000256.3(MYBPC3):c.3746G>T (p.Gly1249Val)
|
rs727504259
|
|
NM_000257.4(MYH7):c.2678C>A (p.Ala893Glu)
|
rs727503254
|
|
NM_000257.4(MYH7):c.5395G>A (p.Glu1799Lys)
|
rs730880816
|
|
NM_000257.4(MYH7):c.611G>T (p.Arg204Leu)
|
rs397516260
|
|
NM_000257.4(MYH7):c.707T>C (p.Val236Ala)
|
rs397516262
|
|
NM_000297.4(PKD2):c.1349G>A (p.Gly450Asp)
|
rs1578135842
|
|
NM_000297.4(PKD2):c.2600T>C (p.Leu867Pro)
|
rs1578153598
|
|
NM_000322.5(PRPH2):c.808CTC[1] (p.Leu271del)
|
rs1582764519
|
|
NM_000350.3(ABCA4):c.2791G>T (p.Val931Leu)
|
rs58331765
|
|
NM_000719.7(CACNA1C):c.2570C>T (p.Pro857Leu)
|
rs750835733
|
|
NM_000883.4(IMPDH1):c.967A>G (p.Lys323Glu)
|
rs1562989913
|
|
NM_000891.3(KCNJ2):c.211G>C (p.Asp71His)
|
rs199473369
|
|
NM_001009944.3(PKD1):c.1295C>T (p.Ala432Val)
|
rs1060499699
|
|
NM_001009944.3(PKD1):c.6752_6754del (p.Val2251del)
|
rs1596550396
|
|
NM_001018005.2(TPM1):c.515T>C (p.Ile172Thr)
|
rs199476312
|
|
NM_001034853.2(RPGR):c.379A>G (p.Arg127Gly)
|
rs62638643
|
|
NM_001042492.3(NF1):c.281T>G (p.Leu94Arg)
|
rs1597629884
|
|
NM_001099274.3(TINF2):c.81C>A (p.Cys27Ter)
|
rs1060499576
|
|
NM_001110792.2(MECP2):c.2T>C (p.Met1Thr)
|
rs2066907057
|
|
NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs)
|
rs886044149
|
|
NM_001200.4(BMP2):c.460C>T (p.Arg154Ter)
|
rs1057523275
|
|
NM_001267550.2(TTN):c.103360del (p.Glu34454fs)
|
rs760768093
|
|
NM_001276345.2(TNNT2):c.268C>T (p.Pro90Ser)
|
rs397516451
|
|
NM_001276345.2(TNNT2):c.446G>A (p.Arg149His)
|
rs397516466
|
|
NM_001276345.2(TNNT2):c.764C>T (p.Ala255Val)
|
rs369181536
|
|
NM_001395891.1(CLASP1):c.196-604C>T
|
rs181195449
|
|
NM_001613.4(ACTA2):c.215C>T (p.Pro72Leu)
|
rs1060500134
|
|
NM_003036.4(SKI):c.352G>A (p.Glu118Lys)
|
rs869025525
|
|
NM_004612.4(TGFBR1):c.707C>T (p.Ser236Phe)
|
rs863223812
|
|
NM_005188.4(CBL):c.2107C>G (p.Pro703Ala)
|
rs1229733932
|
|
NM_006915.3(RP2):c.768G>C (p.Glu256Asp)
|
rs1227276668
|
|
NM_012469.4(PRPF6):c.514C>T (p.Arg172Trp)
|
rs369787039
|
|
NM_014014.5(SNRNP200):c.2044C>T (p.Pro682Ser)
|
rs2063893838
|
|
NM_014249.4(NR2E3):c.289C>T (p.Arg97Cys)
|
rs775720634
|
|
NM_014714.4(IFT140):c.2767_2768+2del
|
rs769075694
|
|
NM_020778.4(ALPK3):c.431_435CCAGG[3] (p.Glu148Glnfs)
|
rs527847958
|
|
NM_033360.4(KRAS):c.189G>T (p.Glu63Asp)
|
rs1592808357
|
|
NM_138694.4(PKHD1):c.3122G>A (p.Gly1041Asp)
|
rs794727466
|
|
NM_153240.5(NPHP3):c.974T>C (p.Leu325Pro)
|
rs1560014265
|
|
NM_153240.5(NPHP3):c.985T>C (p.Cys329Arg)
|
rs766285779
|
|
NM_201253.3(CRB1):c.2365_2367del (p.Asn789del)
|
rs1433518605
|
|
NM_206933.4(USH2A):c.13847G>T (p.Gly4616Val)
|
rs527236124
|
|
NM_206933.4(USH2A):c.6118T>G (p.Cys2040Gly)
|
rs878853412
|
|