NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His)
|
rs62642564
|
0.00654
|
NM_000243.3(MEFV):c.2084A>G (p.Lys695Arg)
|
rs104895094
|
0.00506
|
NM_033100.4(CDHR1):c.783G>A (p.Pro261=)
|
rs147346345
|
0.00446
|
NM_012452.3(TNFRSF13B):c.310T>C (p.Cys104Arg)
|
rs34557412
|
0.00403
|
NM_001098.3(ACO2):c.220C>G (p.Leu74Val)
|
rs141772938
|
0.00383
|
NM_213599.3(ANO5):c.155A>G (p.Asn52Ser)
|
rs143777403
|
0.00238
|
NM_000153.4(GALC):c.334A>G (p.Thr112Ala)
|
rs147313927
|
0.00229
|
NM_000350.3(ABCA4):c.1928T>G (p.Val643Gly)
|
rs61754024
|
0.00178
|
NM_000454.5(SOD1):c.272A>C (p.Asp91Ala)
|
rs80265967
|
0.00126
|
NM_000036.3(AMPD1):c.468G>T (p.Gln156His)
|
rs139582106
|
0.00096
|
NM_001142800.2(EYS):c.2234A>G (p.Asn745Ser)
|
rs201652272
|
0.00066
|
NM_001943.5(DSG2):c.1003A>G (p.Thr335Ala)
|
rs191564916
|
0.00060
|
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His)
|
rs199605265
|
0.00046
|
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met)
|
rs142763740
|
0.00032
|
NM_173477.5(USH1G):c.310A>G (p.Met104Val)
|
rs149529031
|
0.00031
|
NM_054012.4(ASS1):c.-4C>T
|
rs138350285
|
0.00022
|
NM_006767.4(LZTR1):c.264-13G>A
|
rs587777176
|
0.00017
|
NM_213599.3(ANO5):c.1664G>T (p.Ser555Ile)
|
rs375014127
|
0.00015
|
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp)
|
rs121913049
|
0.00013
|
NM_005912.3(MC4R):c.380C>T (p.Ser127Leu)
|
rs13447331
|
0.00008
|
NM_000256.3(MYBPC3):c.1591G>C (p.Gly531Arg)
|
rs397515912
|
0.00006
|
NM_001048174.2(MUTYH):c.954G>A (p.Ser318=)
|
rs372673338
|
0.00004
|
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys)
|
rs587781813
|
0.00004
|
NM_014053.4(FLVCR1):c.847G>C (p.Ala283Pro)
|
rs777525949
|
0.00004
|
NM_174878.3(CLRN1):c.118T>G (p.Cys40Gly)
|
rs121908143
|
0.00004
|
NM_014049.5(ACAD9):c.728C>G (p.Thr243Arg)
|
rs368222811
|
0.00003
|
NM_001360.3(DHCR7):c.682C>T (p.Arg228Trp)
|
rs775773057
|
0.00002
|
NM_005247.4(FGF3):c.166C>T (p.Leu56Phe)
|
rs782324453
|
0.00002
|
NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys)
|
rs113994123
|
0.00002
|
NM_000350.3(ABCA4):c.868C>T (p.Arg290Trp)
|
rs781716640
|
0.00001
|
NM_001009944.3(PKD1):c.6643C>T (p.Arg2215Trp)
|
rs752793757
|
0.00001
|
NM_001114753.3(ENG):c.-10C>T
|
rs756994701
|
0.00001
|
NM_001386393.1(PANK2):c.461G>A (p.Arg154Gln)
|
rs368682034
|
0.00001
|
NM_001458.5(FLNC):c.6889G>A (p.Val2297Met)
|
rs1420394583
|
0.00001
|
NM_003361.4(UMOD):c.326T>A (p.Val109Glu)
|
rs780462125
|
0.00001
|
NM_006005.3(WFS1):c.1037C>T (p.Pro346Leu)
|
rs773900146
|
0.00001
|
NM_007194.4(CHEK2):c.592+3A>T
|
rs587782849
|
0.00001
|
NM_019842.4(KCNQ5):c.2725C>T (p.Arg909Ter)
|
rs776643693
|
0.00001
|
NM_058216.3(RAD51C):c.905-2_905-1del
|
rs587781995
|
0.00001
|
NM_145207.3(AFG2A):c.2321G>A (p.Arg774His)
|
rs539850739
|
0.00001
|
NM_201548.5(CERKL):c.356G>A (p.Gly119Asp)
|
rs1003615909
|
0.00001
|
NM_206933.4(USH2A):c.176G>A (p.Gly59Glu)
|
rs1378799607
|
0.00001
|
NM_000051.4(ATM):c.743G>T (p.Arg248Leu)
|
rs769166447
|
|
NM_000264.5(PTCH1):c.689C>T (p.Thr230Ile)
|
rs1554700630
|
|
NM_000350.3(ABCA4):c.6215G>A (p.Ser2072Asn)
|
rs1553186514
|
|
NM_000435.3(NOTCH3):c.3893G>T (p.Cys1298Phe)
|
rs2046807248
|
|
NM_000440.3(PDE6A):c.2377GAG[1] (p.Glu794del)
|
rs767540194
|
|
NM_000440.3(PDE6A):c.304C>A (p.Arg102Ser)
|
rs141252097
|
|
NM_000530.8(MPZ):c.166G>A (p.Glu56Lys)
|
rs1571820067
|
|
NM_000530.8(MPZ):c.434A>G (p.Tyr145Cys)
|
rs121913603
|
|
NM_000530.8(MPZ):c.646-2A>G
|
rs1670228122
|
|
NM_001003800.2(BICD2):c.2239C>T (p.Arg747Cys)
|
rs1587667544
|
|
NM_001127222.2(CACNA1A):c.4997G>A (p.Arg1666Gln)
|
rs1568447650
|
|
NM_001163435.3(TBCK):c.2512C>T (p.Gln838Ter)
|
rs1740799305
|
|
NM_001244008.2(KIF1A):c.947G>A (p.Arg316Gln)
|
rs749718096
|
|
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys)
|
rs150857620
|
|
NM_001298.3(CNGA3):c.827A>G (p.Asn276Ser)
|
rs199474697
|
|
NM_002074.5(GNB1):c.347G>A (p.Gly116Asp)
|
rs1646670079
|
|
NM_002471.4(MYH6):c.5050C>T (p.Gln1684Ter)
|
rs1849911056
|
|
NM_002641.4(PIGA):c.242G>A (p.Arg81His)
|
rs1922162801
|
|
NM_003073.5(SMARCB1):c.1089G>T (p.Lys363Asn)
|
rs1568963037
|
|
NM_003107.3(SOX4):c.182G>A (p.Arg61Gln)
|
rs1763098947
|
|
NM_003119.4(SPG7):c.2161A>G (p.Asn721Asp)
|
rs2152412388
|
|
NM_003849.4(SUCLG1):c.719T>G (p.Leu240Arg)
|
|
|
NM_004523.4(KIF11):c.2830C>T (p.Arg944Cys)
|
rs387906642
|
|
NM_004820.5(CYP7B1):c.1A>G (p.Met1Val)
|
rs891749853
|
|
NM_005422.4(TECTA):c.6016G>A (p.Asp2006Asn)
|
rs2134215546
|
|
NM_006009.4(TUBA1A):c.26T>C (p.Val9Ala)
|
rs1565627795
|
|
NM_006009.4(TUBA1A):c.521C>T (p.Ala174Val)
|
rs587784489
|
|
NM_006060.6(IKZF1):c.448T>C (p.Cys150Arg)
|
rs1812147849
|
|
NM_006343.3(MERTK):c.2163T>A (p.His721Gln)
|
rs749472520
|
|
NM_006445.4(PRPF8):c.6334AAG[1] (p.Lys2113del)
|
rs1911196248
|
|
NM_006445.4(PRPF8):c.6970dup (p.Glu2324fs)
|
rs1064797215
|
|
NM_006516.4(SLC2A1):c.1402C>T (p.Arg468Trp)
|
rs267607059
|
|
NM_006767.4(LZTR1):c.1687G>C (p.Glu563Gln)
|
rs1374240053
|
|
NM_007194.4(CHEK2):c.846+4_846+7del
|
rs764884641
|
|
NM_007294.4(BRCA1):c.5497G>A (p.Val1833Met)
|
rs80357268
|
|
NM_007327.4(GRIN1):c.1979C>T (p.Pro660Leu)
|
rs1328780843
|
|
NM_013254.4(TBK1):c.230CAA[2] (p.Thr79del)
|
rs748007618
|
|
NM_014053.4(FLVCR1):c.1317G>A (p.Met439Ile)
|
rs1665113651
|
|
NM_014946.4(SPAST):c.1173G>A (p.Leu391=)
|
rs1679218212
|
|
NM_014946.4(SPAST):c.1785C>A (p.Ser595Arg)
|
rs145206063
|
|
NM_015178.3(RHOBTB2):c.1376A>G (p.Asp459Gly)
|
rs1811011518
|
|
NM_016035.5(COQ4):c.437T>G (p.Phe146Cys)
|
rs1163170578
|
|
NM_017635.5(KMT5B):c.2597_2598del (p.Ser866fs)
|
rs888239971
|
|
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu)
|
rs587780332
|
|