NM_002461.3(MVD):c.70+5G>A
|
rs200035262
|
0.00306
|
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys)
|
rs6161
|
0.00262
|
NM_183374.3(CYP26C1):c.845_851dup (p.Gln284fs)
|
rs565866662
|
0.00212
|
NM_001358263.1(HK1):c.75+20082A>G
|
rs187500777
|
0.00198
|
NM_005557.4(KRT16):c.1062A>T (p.Lys354Asn)
|
rs59328451
|
0.00116
|
NM_001363711.2(DUOX2):c.3155G>A (p.Cys1052Tyr)
|
rs76343591
|
0.00109
|
NM_000552.5(VWF):c.5191T>A (p.Ser1731Thr)
|
rs61750603
|
0.00101
|
NM_032551.5(KISS1R):c.1157G>C (p.Arg386Pro)
|
rs121908499
|
0.00088
|
NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His)
|
rs186476316
|
0.00076
|
NM_001004320.2(AGMO):c.1213C>T (p.Arg405Ter)
|
rs139309795
|
0.00072
|
NM_004004.6(GJB2):c.-22-2A>C
|
rs201895089
|
0.00056
|
NM_000204.5(CFI):c.355G>A (p.Gly119Arg)
|
rs141853578
|
0.00040
|
NM_007103.4(NDUFV1):c.595C>T (p.Arg199Cys)
|
rs201289242
|
0.00036
|
NM_001009944.3(PKD1):c.9829C>T (p.Arg3277Cys)
|
rs148812376
|
0.00032
|
NM_000275.3(OCA2):c.1320G>C (p.Leu440Phe)
|
rs1800408
|
0.00024
|
NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln)
|
rs148460146
|
0.00024
|
NM_012144.4(DNAI1):c.180G>A (p.Ala60=)
|
rs201120508
|
0.00020
|
NM_001256317.3(TMPRSS3):c.239G>A (p.Arg80His)
|
rs146159479
|
0.00013
|
NM_001136193.2(FASTKD2):c.911T>C (p.Ile304Thr)
|
rs144499152
|
0.00012
|
NM_003000.3(SDHB):c.403G>A (p.Val135Met)
|
rs201585157
|
0.00012
|
NM_016239.4(MYO15A):c.9861C>T (p.Gly3287=)
|
rs372466080
|
0.00011
|
NM_000424.4(KRT5):c.1675C>T (p.Arg559Ter)
|
rs754242209
|
0.00009
|
NM_198076.6(COX20):c.92G>A (p.Arg31Gln)
|
rs764620077
|
0.00007
|
NM_006915.3(RP2):c.8G>C (p.Cys3Ser)
|
rs782344765
|
0.00005
|
NM_173689.7(CRB2):c.1928A>C (p.Glu643Ala)
|
rs730880300
|
0.00004
|
NM_001830.4(CLCN4):c.2153G>A (p.Arg718Gln)
|
rs779824005
|
0.00003
|
NM_000238.4(KCNH2):c.1128+1820_1128+1821del
|
rs1064794494
|
0.00001
|
NM_000256.3(MYBPC3):c.1147C>G (p.Leu383Val)
|
rs11570077
|
0.00001
|
NM_000256.3(MYBPC3):c.2274C>T (p.Gly758=)
|
rs397515957
|
0.00001
|
NM_001037.5(SCN1B):c.373C>T (p.Arg125Cys)
|
rs1135401736
|
0.00001
|
NM_000179.3(MSH6):c.3173-10_3173-6del
|
rs781520783
|
|
NM_000213.5(ITGB4):c.3977-30_3977-17del
|
rs1064795468
|
|
NM_000215.4(JAK3):c.2773C>A (p.Arg925Ser)
|
rs149452625
|
|
NM_000350.3(ABCA4):c.859-9T>C
|
rs529598960
|
|
NM_000540.3(RYR1):c.6353G>C (p.Arg2118Pro)
|
rs201649680
|
|
NM_001040142.2(SCN2A):c.1820G>A (p.Arg607Gln)
|
rs755003900
|
|
NM_001114753.3(ENG):c.219G>A (p.Thr73=)
|
rs755348996
|
|
NM_001358921.2(COQ2):c.138dup (p.Ala47fs)
|
rs759310292
|
|
NM_001363711.2(DUOX2):c.2048G>T (p.Arg683Leu)
|
rs8028305
|
|
NM_001376.5(DYNC1H1):c.7918G>A (p.Glu2640Lys)
|
rs797045535
|
|
NM_001378609.3(OTOGL):c.4199+5_4199+8del
|
rs1887509535
|
|
NM_002693.3(POLG):c.830A>T (p.His277Leu)
|
rs138929605
|
|
Single allele
|
|
|