NM_000372.5(TYR):c.1205G>A (p.Arg402Gln)
|
rs1126809
|
0.18094
|
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val)
|
rs35077384
|
0.02717
|
NM_000219.6(KCNE1):c.253G>A (p.Asp85Asn)
|
rs1805128
|
0.00841
|
NM_000157.4(GBA1):c.1223C>T (p.Thr408Met)
|
rs75548401
|
0.00627
|
NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser)
|
rs55638457
|
0.00545
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00399
|
NM_005472.5(KCNE3):c.248G>A (p.Arg83His)
|
rs17215437
|
0.00338
|
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met)
|
rs60986317
|
0.00282
|
NM_000350.3(ABCA4):c.466A>G (p.Ile156Val)
|
rs62646863
|
0.00222
|
NM_001164508.2(NEB):c.25367C>T (p.Thr8456Met)
|
rs78592085
|
0.00208
|
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His)
|
rs45629132
|
0.00164
|
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser)
|
rs121918799
|
0.00159
|
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn)
|
rs142155101
|
0.00153
|
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile)
|
rs72552259
|
0.00149
|
NM_004004.6(GJB2):c.380G>A (p.Arg127His)
|
rs111033196
|
0.00143
|
NM_198578.4(LRRK2):c.3777+7C>T
|
rs41286480
|
0.00097
|
NM_002225.5(IVD):c.164A>T (p.Lys55Met)
|
rs145999491
|
0.00093
|
NM_000085.5(CLCNKB):c.700T>C (p.Trp234Arg)
|
rs144517772
|
0.00088
|
NM_206933.4(USH2A):c.5858C>G (p.Ala1953Gly)
|
rs41302239
|
0.00081
|
NM_172201.2(KCNE2):c.170T>C (p.Ile57Thr)
|
rs74315448
|
0.00063
|
NM_206933.4(USH2A):c.10769C>T (p.Pro3590Leu)
|
rs115403785
|
0.00058
|
NM_000532.5(PCCB):c.1421A>G (p.Lys474Arg)
|
rs145628302
|
0.00054
|
NM_000532.5(PCCB):c.763+10C>G
|
rs180982841
|
0.00054
|
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys)
|
rs77130927
|
0.00051
|
NM_152296.5(ATP1A3):c.1387C>T (p.Arg463Cys)
|
rs150785666
|
0.00050
|
NM_013275.6(ANKRD11):c.6919C>T (p.Pro2307Ser)
|
rs575642464
|
0.00035
|
NM_001009944.3(PKD1):c.7937T>C (p.Ile2646Thr)
|
rs374500158
|
0.00029
|
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln)
|
rs56679084
|
0.00027
|
NM_198578.4(LRRK2):c.4536+3A>G
|
rs41286476
|
0.00027
|
NM_000553.6(WRN):c.2986G>A (p.Asp996Asn)
|
rs138379977
|
0.00026
|
NM_004415.4(DSP):c.1696G>A (p.Ala566Thr)
|
rs148147581
|
0.00026
|
NM_000260.4(MYO7A):c.1132C>T (p.Arg378Cys)
|
rs199818783
|
0.00024
|
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr)
|
rs45520032
|
0.00015
|
NM_016203.4(PRKAG2):c.698C>G (p.Ala233Gly)
|
rs201240745
|
0.00015
|
NM_000532.5(PCCB):c.654+3A>C
|
rs199886085
|
0.00014
|
NM_001267550.2(TTN):c.73303C>T (p.Arg24435Cys)
|
rs200028088
|
0.00012
|
NM_004415.4(DSP):c.5744G>A (p.Arg1915His)
|
rs146617683
|
0.00011
|
NM_000465.4(BARD1):c.1694G>A (p.Arg565His)
|
rs146946984
|
0.00009
|
NM_001042492.3(NF1):c.5513C>G (p.Ser1838Cys)
|
rs368654378
|
0.00009
|
NM_014159.7(SETD2):c.148G>A (p.Ala50Thr)
|
rs191985301
|
0.00008
|
NM_018706.7(DHTKD1):c.718-5A>G
|
rs374421488
|
0.00007
|
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys)
|
rs200620434
|
0.00006
|
NM_006950.3(SYN1):c.435+10G>A
|
rs771547188
|
0.00004
|
NM_015559.3(SETBP1):c.4160C>T (p.Thr1387Met)
|
rs200881888
|
0.00004
|
NM_000094.4(COL7A1):c.2045G>A (p.Arg682Gln)
|
rs772900092
|
0.00003
|
NM_001003800.2(BICD2):c.638A>G (p.Lys213Arg)
|
rs755962512
|
0.00003
|
NM_001083962.2(TCF4):c.466C>A (p.Pro156Thr)
|
rs200889338
|
0.00003
|
NM_024422.6(DSC2):c.802A>G (p.Thr268Ala)
|
rs201015785
|
0.00003
|
NM_001110556.2(FLNA):c.461T>C (p.Met154Thr)
|
rs782240483
|
0.00002
|
NM_001323289.2(CDKL5):c.2408C>T (p.Thr803Met)
|
rs1005844306
|
0.00002
|
NM_004484.4(GPC3):c.733C>A (p.His245Asn)
|
rs199778216
|
0.00002
|
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=)
|
rs372979339
|
0.00001
|
NM_000091.5(COL4A3):c.2746+17C>T
|
rs765408537
|
0.00001
|
NM_000628.5(IL10RB):c.647-14A>C
|
rs45526732
|
0.00001
|
NM_001042492.3(NF1):c.584A>G (p.Lys195Arg)
|
rs587778552
|
0.00001
|
NM_001134363.3(RBM20):c.3301G>A (p.Glu1101Lys)
|
rs959605686
|
0.00001
|
NM_003036.4(SKI):c.1735G>A (p.Ala579Thr)
|
rs370558210
|
0.00001
|
NM_003072.5(SMARCA4):c.2439-12T>G
|
rs1462368992
|
0.00001
|
NM_004380.3(CREBBP):c.2557C>A (p.Leu853Met)
|
rs542970560
|
0.00001
|
NM_004380.3(CREBBP):c.62G>A (p.Gly21Asp)
|
rs1211983012
|
0.00001
|
NM_017780.4(CHD7):c.6817A>G (p.Asn2273Asp)
|
rs1329129099
|
0.00001
|
NM_024675.4(PALB2):c.1987C>T (p.Arg663Cys)
|
rs62625277
|
0.00001
|
NM_000053.4(ATP7B):c.2356-16del
|
rs1257703465
|
|
NM_000081.4(LYST):c.11038+11T>C
|
|
|
NM_000330.4(RS1):c.185-3221G>A
|
rs374054249
|
|
NM_000520.6(HEXA):c.460-19C>T
|
rs1680245631
|
|
NM_001111125.3(IQSEC2):c.2670C>T (p.Leu890=)
|
rs2074317922
|
|
NM_001161352.2(KCNMA1):c.3697G>A (p.Glu1233Lys)
|
rs779739159
|
|
NM_001267550.2(TTN):c.105514_105516del (p.Ser35172del)
|
rs573843615
|
|
NM_001271.4(CHD2):c.692+10A>G
|
rs370469675
|
|
NM_001371928.1(AHDC1):c.3254CCT[6] (p.Ser1091del)
|
rs530256606
|
|
NM_001376.5(DYNC1H1):c.10693A>G (p.Ser3565Gly)
|
rs2048546542
|
|
NM_001376.5(DYNC1H1):c.12191C>T (p.Thr4064Met)
|
rs750249796
|
|
NM_003072.5(SMARCA4):c.1944-12C>A
|
rs149763341
|
|
NM_003072.5(SMARCA4):c.4171-1861A>G
|
rs771462690
|
|
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu)
|
rs35766612
|
|
NM_006950.3(SYN1):c.1982+10C>A
|
rs752321936
|
|
NM_014946.4(SPAST):c.519A>G (p.Arg173=)
|
rs1677627735
|
|
NM_020708.5(SLC12A5):c.1689-7G>A
|
rs2084595386
|
|
NM_025137.4(SPG11):c.7152-6A>G
|
rs2082233766
|
|