NM_000410.4(HFE):c.845G>A (p.Cys282Tyr)
|
rs1800562
|
0.03880
|
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val)
|
rs17580
|
0.02950
|
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)
|
rs61747728
|
0.02796
|
NM_005105.5(RBM8A):c.-21G>A
|
rs139428292
|
0.01871
|
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys)
|
rs28929474
|
0.01282
|
NM_016233.2(PADI3):c.881C>T (p.Ala294Val)
|
rs144080386
|
0.00620
|
NM_022173.4(TIA1):c.1070A>G (p.Asn357Ser)
|
rs116621885
|
0.00569
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_002016.2(FLG):c.2476C>T (p.Arg826Ter)
|
rs115746363
|
0.00243
|
NM_000155.4(GALT):c.563A>G (p.Gln188Arg)
|
rs75391579
|
0.00192
|
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn)
|
rs121434346
|
0.00168
|
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)
|
rs150766139
|
0.00138
|
NM_001041.4(SI):c.1730T>G (p.Val577Gly)
|
rs121912615
|
0.00131
|
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr)
|
rs137868995
|
0.00125
|
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile)
|
rs201162411
|
0.00116
|
NM_004130.4(GYG1):c.304G>C (p.Asp102His)
|
rs143137713
|
0.00109
|
NM_001041.4(SI):c.5234T>G (p.Phe1745Cys)
|
rs79717168
|
0.00108
|
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg)
|
rs191312027
|
0.00101
|
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg)
|
rs121918054
|
0.00096
|
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)
|
rs150487794
|
0.00071
|
NM_020041.3(SLC2A9):c.646G>A (p.Gly216Arg)
|
rs561633150
|
0.00061
|
NM_004369.4(COL6A3):c.7447A>G (p.Lys2483Glu)
|
rs139260335
|
0.00057
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_005689.4(ABCB6):c.376del (p.Val126fs)
|
rs377591749
|
0.00033
|
NM_000137.4(FAH):c.1062+5G>A
|
rs80338901
|
0.00028
|
NM_003085.5(SNCB):c.368C>A (p.Pro123His)
|
rs104893937
|
0.00021
|
NM_080916.3(DGUOK):c.462T>A (p.Asn154Lys)
|
rs144181978
|
0.00021
|
NM_000132.4(F8):c.396A>C (p.Glu132Asp)
|
rs137852388
|
0.00018
|
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro)
|
rs61751392
|
0.00017
|
NM_000440.3(PDE6A):c.1705C>A (p.Gln569Lys)
|
rs139444207
|
0.00015
|
NM_000717.5(CA4):c.40C>T (p.Arg14Trp)
|
rs104894559
|
0.00014
|
NM_001384732.1(CPLANE1):c.424G>A (p.Glu142Lys)
|
rs756856188
|
0.00014
|
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)
|
rs200094982
|
0.00014
|
NM_014625.4(NPHS2):c.868G>A (p.Val290Met)
|
rs200482683
|
0.00011
|
NM_005609.4(PYGM):c.1805G>A (p.Arg602Gln)
|
rs373190458
|
0.00009
|
NM_000518.5(HBB):c.92+6T>C
|
rs35724775
|
0.00007
|
NM_001142800.2(EYS):c.6416G>A (p.Cys2139Tyr)
|
rs749909863
|
0.00007
|
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln)
|
rs78769542
|
0.00006
|
NM_170784.3(MKKS):c.830T>C (p.Leu277Pro)
|
rs74315398
|
0.00006
|
NM_000500.9(CYP21A2):c.1024C>T (p.Arg342Trp)
|
rs72552755
|
0.00005
|
NM_015272.5(RPGRIP1L):c.2614C>T (p.Gln872Ter)
|
rs121918203
|
0.00005
|
NM_138691.3(TMC1):c.1333C>T (p.Arg445Cys)
|
rs372710475
|
0.00005
|
NM_000018.4(ACADVL):c.1153C>T (p.Arg385Trp)
|
rs745832866
|
0.00004
|
NM_000500.9(CYP21A2):c.1226G>A (p.Arg409His)
|
rs1351045983
|
0.00004
|
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met)
|
rs118192140
|
0.00004
|
NM_004444.5(EPHB4):c.1054C>T (p.Arg352Ter)
|
rs898898802
|
0.00004
|
NM_005276.4(GPD1):c.805C>T (p.Arg269Trp)
|
rs761342764
|
0.00004
|
NM_005912.3(MC4R):c.896C>A (p.Pro299His)
|
rs52804924
|
0.00004
|
NM_020366.4(RPGRIP1):c.2302C>T (p.Arg768Ter)
|
rs75459701
|
0.00004
|
NM_138694.4(PKHD1):c.4292G>A (p.Cys1431Tyr)
|
rs753307105
|
0.00004
|
NM_138694.4(PKHD1):c.6900C>T (p.Asn2300=)
|
rs776060304
|
0.00004
|
NM_000275.3(OCA2):c.2207C>T (p.Ser736Leu)
|
rs780296175
|
0.00003
|
NM_000317.3(PTS):c.84-291A>G
|
rs1480995114
|
0.00003
|
NM_000091.5(COL4A3):c.898G>A (p.Gly300Arg)
|
rs772708743
|
0.00002
|
NM_000313.4(PROS1):c.233C>T (p.Thr78Met)
|
rs6122
|
0.00002
|
NM_000352.6(ABCC8):c.208G>A (p.Gly70Arg)
|
rs764349043
|
0.00002
|
NM_017668.3(NDE1):c.130C>T (p.Arg44Ter)
|
rs747020521
|
0.00002
|
NM_138694.4(PKHD1):c.8425G>A (p.Gly2809Arg)
|
rs398124497
|
0.00002
|
NM_178857.6(RP1L1):c.1107G>A (p.Trp369Ter)
|
rs567106336
|
0.00002
|
NM_000091.5(COL4A3):c.343G>A (p.Gly115Arg)
|
rs202147112
|
0.00001
|
NM_000092.5(COL4A4):c.1441G>A (p.Gly481Ser)
|
rs181528936
|
0.00001
|
NM_000132.4(F8):c.6623A>G (p.Gln2208Arg)
|
rs782198570
|
0.00001
|
NM_000162.5(GCK):c.370G>A (p.Asp124Asn)
|
rs759072800
|
0.00001
|
NM_000271.5(NPC1):c.2972_2973del (p.Gln991fs)
|
rs756815030
|
0.00001
|
NM_000540.3(RYR1):c.14818G>A (p.Ala4940Thr)
|
rs118192158
|
0.00001
|
NM_000540.3(RYR1):c.529C>T (p.Arg177Cys)
|
rs193922757
|
0.00001
|
NM_001009944.3(PKD1):c.9412G>A (p.Val3138Met)
|
rs1358566538
|
0.00001
|
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)
|
rs201553266
|
0.00001
|
NM_001165963.4(SCN1A):c.2576G>A (p.Arg859His)
|
rs398123588
|
0.00001
|
NM_001354712.2(THRB):c.1312C>T (p.Arg438Cys)
|
rs367757240
|
0.00001
|
NM_004168.4(SDHA):c.1471G>T (p.Glu491Ter)
|
rs778207102
|
0.00001
|
NM_006031.6(PCNT):c.6162_6163del (p.Lys2054fs)
|
rs778391726
|
0.00001
|
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter)
|
rs80357433
|
0.00001
|
NM_015443.4(KANSL1):c.808_809del (p.Leu270fs)
|
rs551541795
|
0.00001
|
NM_015559.3(SETBP1):c.2612T>C (p.Ile871Thr)
|
rs267607038
|
0.00001
|
NM_138694.4(PKHD1):c.2864T>G (p.Phe955Cys)
|
rs777158800
|
0.00001
|
NM_206933.4(USH2A):c.653T>A (p.Val218Glu)
|
rs397518026
|
0.00001
|
NM_000018.4(ACADVL):c.830AGA[1] (p.Lys278del)
|
rs769280599
|
|
NM_000038.6(APC):c.2547_2550del (p.Asp849fs)
|
rs398123118
|
|
NM_000059.4(BRCA2):c.3344del (p.Ser1115fs)
|
rs1135401900
|
|
NM_000098.3(CPT2):c.534_558delinsT (p.Leu178_Ile186delinsPhe)
|
rs515726173
|
|
NM_000138.5(FBN1):c.7540G>A (p.Gly2514Arg)
|
rs363811
|
|
NM_000243.3(MEFV):c.2230G>T (p.Ala744Ser)
|
rs61732874
|
|
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)
|
rs63749849
|
|
NM_000275.3(OCA2):c.619_636del (p.Leu207_Leu212del)
|
rs767489236
|
|
NM_000275.3(OCA2):c.819_822delinsGGTC (p.Asn273_Trp274delinsLysVal)
|
rs797044784
|
|
NM_000419.5(ITGA2B):c.1234G>A (p.Gly412Arg)
|
rs780786843
|
|
NM_000443.4(ABCB4):c.1015dup (p.Ser339fs)
|
rs753104429
|
|
NM_000463.3(UGT1A1):c.1084G>A (p.Gly362Ser)
|
rs755218546
|
|
NM_000540.3(RYR1):c.12083C>T (p.Ser4028Leu)
|
rs794728696
|
|
NM_000540.3(RYR1):c.14582G>A (p.Arg4861His)
|
rs63749869
|
|
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr)
|
rs118192170
|
|
NM_000540.3(RYR1):c.528G>T (p.Glu176Asp)
|
rs1568436081
|
|
NM_000540.3(RYR1):c.8342_8343del (p.Ile2781fs)
|
rs758580075
|
|
NM_000551.4(VHL):c.500G>A (p.Arg167Gln)
|
rs5030821
|
|
NM_000552.5(VWF):c.7483del (p.Leu2495fs)
|
rs1229452874
|
|
NM_001009944.3(PKD1):c.1543G>A (p.Gly515Arg)
|
rs1555458704
|
|
NM_001009944.3(PKD1):c.1831C>T (p.Arg611Trp)
|
rs1555458413
|
|
NM_001009944.3(PKD1):c.4825ATC[1] (p.Ile1610del)
|
rs1567198691
|
|
NM_001267550.2(TTN):c.38442dup (p.Pro12815fs)
|
rs752101551
|
|
NM_001303256.3(MORC2):c.394C>T (p.Arg132Cys)
|
rs1064795559
|
|
NM_001321120.2(TBX4):c.702+1G>A
|
rs1555883342
|
|
NM_001377.3(DYNC2H1):c.10900C>T (p.Pro3634Ser)
|
rs769053227
|
|
NM_004380.3(CREBBP):c.5614A>G (p.Met1872Val)
|
rs797045037
|
|
NM_005664.4(MKRN3):c.482dup (p.Ala162fs)
|
rs763195944
|
|
NM_007294.4(BRCA1):c.4524G>A (p.Trp1508Ter)
|
rs80356885
|
|
NM_014946.4(SPAST):c.1496G>A (p.Arg499His)
|
rs878854991
|
|
NM_015100.4(POGZ):c.1180_1181del (p.Met394fs)
|
rs1057518170
|
|
NM_020320.5(RARS2):c.734G>A (p.Arg245Gln)
|
|
|
NM_025137.4(SPG11):c.6898_6899del (p.Leu2300fs)
|
rs312262786
|
|
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp)
|
rs370277502
|
|
NM_177438.3(DICER1):c.5125G>A (p.Asp1709Asn)
|
rs1595331264
|
|
NM_182943.3(PLOD2):c.2122-2A>G
|
|
|
NM_206965.2(FTCD):c.990dup (p.Pro331fs)
|
rs398124234
|
|