NM_019066.5(MAGEL2):c.385A>G (p.Met129Val)
|
rs188762916
|
0.00109
|
NM_004667.6(HERC2):c.10424C>T (p.Ser3475Phe)
|
rs148150960
|
0.00031
|
NM_017780.4(CHD7):c.2831G>A (p.Arg944His)
|
rs117506164
|
0.00030
|
NM_000406.3(GNRHR):c.416G>A (p.Arg139His)
|
rs104893842
|
0.00021
|
NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp)
|
rs374434303
|
0.00006
|
NM_006261.5(PROP1):c.150del (p.Arg53fs)
|
rs587776683
|
0.00006
|
NM_002303.6(LEPR):c.2221G>A (p.Val741Met)
|
rs532294036
|
0.00003
|
NM_004667.6(HERC2):c.8012C>G (p.Ala2671Gly)
|
rs759661460
|
0.00003
|
NM_004667.6(HERC2):c.5351G>A (p.Arg1784His)
|
rs1377524842
|
0.00001
|
NM_004667.6(HERC2):c.8598C>G (p.Ile2866Met)
|
rs1009967374
|
0.00001
|
NM_015295.3(SMCHD1):c.5798T>A (p.Leu1933His)
|
rs1405560459
|
0.00001
|
NM_017780.4(CHD7):c.3712G>A (p.Val1238Ile)
|
rs794727150
|
0.00001
|
NM_017780.4(CHD7):c.6817A>G (p.Asn2273Asp)
|
rs1329129099
|
0.00001
|
NM_017780.4(CHD7):c.7958G>A (p.Arg2653Gln)
|
rs747082615
|
0.00001
|
NM_017780.4(CHD7):c.8957G>C (p.Gly2986Ala)
|
rs374004489
|
0.00001
|
NM_019066.5(MAGEL2):c.1220C>T (p.Pro407Leu)
|
rs964772041
|
0.00001
|
NM_000061.3(BTK):c.895-12T>C
|
rs1926564625
|
|
NM_000406.3(GNRHR):c.511G>A (p.Ala171Thr)
|
rs74452732
|
|
NM_001166114.2(PNPLA6):c.898C>G (p.Pro300Ala)
|
rs1057518936
|
|
NM_002487.3(NDN):c.212A>G (p.Gln71Arg)
|
rs1891161078
|
|
NM_002487.3(NDN):c.472dup (p.Thr158fs)
|
rs1891151702
|
|
NM_004667.6(HERC2):c.11701-1G>A
|
rs1891259083
|
|
NM_005634.3(SOX3):c.186TCC[1] (p.Pro64del)
|
rs1927349741
|
|
NM_012431.3(SEMA3E):c.944T>G (p.Leu315Arg)
|
rs1788311962
|
|
NM_015295.3(SMCHD1):c.2972G>A (p.Ser991Asn)
|
rs2075090484
|
|
NM_017780.4(CHD7):c.1405A>G (p.Arg469Gly)
|
rs868107005
|
|
NM_017780.4(CHD7):c.1480C>T (p.Arg494Ter)
|
rs587783429
|
|
NM_017780.4(CHD7):c.1513C>T (p.Gln505Ter)
|
rs1554581757
|
|
NM_017780.4(CHD7):c.1676C>T (p.Ser559Leu)
|
rs1402410171
|
|
NM_017780.4(CHD7):c.299C>A (p.Ser100Tyr)
|
rs1809030198
|
|
NM_017780.4(CHD7):c.3659C>A (p.Ala1220Asp)
|
rs1181372363
|
|
NM_017780.4(CHD7):c.4203_4204del (p.His1401fs)
|
rs1804800490
|
|
NM_017780.4(CHD7):c.6103+9A>G
|
rs1805508072
|
|
NM_017780.4(CHD7):c.6551A>T (p.Lys2184Met)
|
rs749435288
|
|
NM_017780.4(CHD7):c.8182G>T (p.Ala2728Ser)
|
rs757725468
|
|
NM_018117.12(WDR11):c.373C>T (p.Gln125Ter)
|
rs1846091309
|
|
NM_019066.5(MAGEL2):c.2945_2946del (p.Leu981_Ser982insTer)
|
rs1890356742
|
|
NM_019066.5(MAGEL2):c.3131C>T (p.Ser1044Leu)
|
rs1267004913
|
|
NM_019066.5(MAGEL2):c.539_568del (p.Val180_Met189del)
|
rs779748148
|
|
NM_033343.4(LHX4):c.90C>G (p.Cys30Trp)
|
rs147491286
|
|