NM_213647.3(FGFR4):c.1162G>A (p.Gly388Arg)
|
rs351855
|
0.26099
|
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter)
|
rs17602729
|
0.08701
|
NM_000140.5(FECH):c.315-48T>C
|
rs2272783
|
0.06200
|
NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03880
|
NM_001385875.1(ZFYVE27):c.572G>T (p.Gly191Val)
|
rs35077384
|
0.02717
|
NM_006432.5(NPC2):c.441+1G>A
|
rs140130028
|
0.00399
|
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr)
|
rs112029032
|
0.00361
|
NM_024921.4(POF1B):c.986G>A (p.Arg329Gln)
|
rs75398746
|
0.00354
|
NM_001009944.3(PKD1):c.971G>T (p.Arg324Leu)
|
rs199476099
|
0.00351
|
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile)
|
rs121918166
|
0.00350
|
NM_000104.4(CYP1B1):c.1103G>A (p.Arg368His)
|
rs79204362
|
0.00125
|
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr)
|
rs121908287
|
0.00117
|
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_000327.4(ROM1):c.339dup (p.Leu114fs)
|
rs71458427
|
0.00033
|
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)
|
rs121913016
|
0.00030
|
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)
|
rs144564120
|
0.00029
|
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln)
|
rs56679084
|
0.00027
|
NM_001202.6(BMP4):c.272C>G (p.Ser91Cys)
|
rs121912767
|
0.00018
|
NM_006205.3(PDE6H):c.35C>G (p.Ser12Ter)
|
rs200311463
|
0.00012
|
NM_015141.4(GPD1L):c.839C>T (p.Ala280Val)
|
rs72552291
|
0.00011
|
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro)
|
rs201689565
|
0.00011
|
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val)
|
rs202003805
|
0.00009
|
NM_032620.4(GTPBP3):c.964G>C (p.Ala322Pro)
|
rs372174278
|
0.00009
|
NM_000702.4(ATP1A2):c.193C>T (p.Arg65Trp)
|
rs121918619
|
0.00006
|
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp)
|
rs374434303
|
0.00006
|
NM_001273.5(CHD4):c.4822G>A (p.Val1608Ile)
|
rs201992075
|
0.00005
|
NM_020247.5(COQ8A):c.812G>A (p.Arg271His)
|
rs765859566
|
0.00003
|
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp)
|
rs774393243
|
0.00002
|
NM_000257.4(MYH7):c.5342G>A (p.Arg1781His)
|
rs397516246
|
0.00002
|
NM_001012720.2(RGR):c.196A>C (p.Ser66Arg)
|
rs104894187
|
0.00002
|
NM_000053.4(ATP7B):c.2292C>T (p.Phe764=)
|
rs372979339
|
0.00001
|
NM_000091.5(COL4A3):c.765G>A (p.Thr255=)
|
rs869025328
|
0.00001
|
NM_000153.4(GALC):c.1898C>T (p.Thr633Met)
|
rs766762599
|
0.00001
|
NM_000183.3(HADHB):c.181C>T (p.Arg61Cys)
|
rs780351691
|
0.00001
|
NM_000270.4(PNP):c.265G>A (p.Glu89Lys)
|
rs104894453
|
0.00001
|
NM_001077653.2(TBX20):c.456C>G (p.Ile152Met)
|
rs137852954
|
0.00001
|
NM_001151.4(SLC25A4):c.368C>A (p.Ala123Asp)
|
rs121912683
|
0.00001
|
NM_001267550.2(TTN):c.107635C>T (p.Gln35879Ter)
|
rs757082154
|
0.00001
|
NM_001378615.1(CC2D2A):c.2999A>T (p.Glu1000Val)
|
rs773881370
|
0.00001
|
NC_012920.1:m.9185T>C
|
rs199476138
|
|
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys)
|
rs775836288
|
|
NM_000465.4(BARD1):c.1538T>G (p.Leu513Ter)
|
rs2106076340
|
|
NM_000782.5(CYP24A1):c.1315C>T (p.Arg439Cys)
|
rs374292194
|
|
NM_001134407.3(GRIN2A):c.1492G>A (p.Gly498Ser)
|
rs757713617
|
|
NM_001142800.2(EYS):c.1299+5_1299+8del
|
rs1562140604
|
|
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu)
|
rs369638371
|
|
NM_001372.4(DNAH9):c.308dup (p.Leu104fs)
|
rs769795916
|
|
NM_001946.4(DUSP6):c.229T>A (p.Phe77Ile)
|
rs587776978
|
|
NM_003718.5(CDK13):c.484dup (p.Ala162fs)
|
rs1405252481
|
|
NM_005909.5(MAP1B):c.3316C>T (p.Arg1106Ter)
|
rs1554055106
|
|
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg)
|
rs1131692228
|
|
NM_144666.3(DNHD1):c.10717G>T (p.Glu3573Ter)
|
rs763743788
|
|
NM_144773.4(PROKR2):c.58del (p.His20fs)
|
rs587777834
|
|
NM_194454.3(KRIT1):c.1201_1204del (p.Gln401fs)
|
rs1057517753
|
|
NM_198252.3(GSN):c.1585G>A (p.Glu529Lys)
|
rs2063220897
|
|