NM_004998.4(MYO1E):c.332+8G>A
|
rs4508371
|
0.97982
|
NM_000092.5(COL4A4):c.3979G>A (p.Val1327Met)
|
rs2229813
|
0.46716
|
NM_014625.4(NPHS2):c.725C>T (p.Ala242Val)
|
rs61747727
|
0.02224
|
NM_000243.3(MEFV):c.442G>C (p.Glu148Gln)
|
rs3743930
|
0.02112
|
NM_004646.4(NPHS1):c.59-5C>G
|
rs114595892
|
0.01945
|
NM_000492.4(CFTR):c.1584G>A (p.Glu528=)
|
rs1800095
|
0.01670
|
NM_002693.3(POLG):c.1550G>T (p.Gly517Val)
|
rs61752783
|
0.00516
|
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu)
|
rs143759519
|
0.00440
|
NM_014625.4(NPHS2):c.59C>T (p.Pro20Leu)
|
rs74315344
|
0.00425
|
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly)
|
rs28897689
|
0.00419
|
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys)
|
rs4988345
|
0.00363
|
NM_000492.4(CFTR):c.650A>G (p.Glu217Gly)
|
rs121909046
|
0.00335
|
NM_004525.3(LRP2):c.10937G>A (p.Arg3646His)
|
rs142549310
|
0.00298
|
NM_015141.4(GPD1L):c.370A>G (p.Ile124Val)
|
rs72552293
|
0.00291
|
NM_000939.4(POMC):c.706C>G (p.Arg236Gly)
|
rs28932472
|
0.00286
|
NM_032043.3(BRIP1):c.2097+7G>A
|
rs4988352
|
0.00271
|
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys)
|
rs1799954
|
0.00268
|
NM_000492.4(CFTR):c.2620-15C>G
|
rs139379077
|
0.00212
|
NM_002941.4(ROBO1):c.2204G>A (p.Ser735Asn)
|
rs34515208
|
0.00193
|
NM_000051.4(ATM):c.1066-6T>G
|
rs201686625
|
0.00139
|
NM_000492.4(CFTR):c.91C>T (p.Arg31Cys)
|
rs1800073
|
0.00134
|
NM_000492.4(CFTR):c.1666A>G (p.Ile556Val)
|
rs75789129
|
0.00119
|
NM_003977.4(AIP):c.911G>A (p.Arg304Gln)
|
rs104894190
|
0.00115
|
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser)
|
rs147213895
|
0.00104
|
NM_024675.4(PALB2):c.1194G>A (p.Val398=)
|
rs61755173
|
0.00103
|
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr)
|
rs35516286
|
0.00083
|
NM_001365536.1(SCN9A):c.684C>G (p.Ile228Met)
|
rs71428908
|
0.00081
|
NM_000492.4(CFTR):c.2735C>T (p.Ser912Leu)
|
rs121909034
|
0.00068
|
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser)
|
rs138776684
|
0.00061
|
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln)
|
rs143486492
|
0.00059
|
NM_000492.4(CFTR):c.2506G>T (p.Asp836Tyr)
|
rs201386642
|
0.00040
|
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala)
|
rs104886164
|
0.00034
|
NM_000069.3(CACNA1S):c.530C>T (p.Ser177Leu)
|
rs141204958
|
0.00029
|
NM_152564.5(VPS13B):c.7669G>A (p.Asp2557Asn)
|
rs773242093
|
0.00029
|
NM_000492.4(CFTR):c.3963+69A>G
|
rs540577876
|
0.00019
|
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val)
|
rs201712827
|
0.00017
|
NM_000069.3(CACNA1S):c.2099C>T (p.Thr700Met)
|
rs147112322
|
0.00016
|
NM_000489.6(ATRX):c.1648A>G (p.Ser550Gly)
|
rs201284965
|
0.00015
|
NM_000257.4(MYH7):c.3286G>T (p.Asp1096Tyr)
|
rs45478699
|
0.00013
|
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu)
|
rs199594809
|
0.00006
|
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn)
|
rs28897691
|
0.00006
|
NM_024757.5(EHMT1):c.149C>T (p.Ala50Val)
|
rs143155406
|
0.00006
|
NM_001134407.3(GRIN2A):c.2966A>G (p.Asn989Ser)
|
rs531782747
|
0.00005
|
NM_004360.5(CDH1):c.2494G>A (p.Val832Met)
|
rs35572355
|
0.00004
|
NM_000492.4(CFTR):c.164+12T>C
|
rs121908790
|
0.00001
|
NM_000492.4(CFTR):c.3771T>G (p.Phe1257Leu)
|
rs397508607
|
0.00001
|
NM_000527.5(LDLR):c.1966C>A (p.His656Asn)
|
rs762815611
|
0.00001
|
NM_000548.5(TSC2):c.2521G>A (p.Val841Ile)
|
rs549612492
|
0.00001
|
NM_001347721.2(DYRK1A):c.649C>T (p.Arg217Cys)
|
rs1462221945
|
0.00001
|
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala)
|
rs35502531
|
|
NM_000527.5(LDLR):c.148G>T (p.Ala50Ser)
|
rs137853960
|
|
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)
|
rs63750668
|
|
NM_001351132.2(PEX5):c.147+77_147+121del
|
|
|
NM_007294.4(BRCA1):c.3415AGT[1] (p.Ser1140del)
|
rs80358337
|
|