NM_144672.4(OTOA):c.2359G>T (p.Glu787Ter)
|
rs200988634
|
0.00927
|
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln)
|
rs41276738
|
0.00377
|
NM_005055.5(RAPSN):c.264C>A (p.Asn88Lys)
|
rs104894299
|
0.00149
|
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)
|
rs75184679
|
0.00141
|
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)
|
rs104893915
|
0.00106
|
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val)
|
rs141976414
|
0.00080
|
NM_014305.4(TGDS):c.298G>T (p.Ala100Ser)
|
rs140430952
|
0.00041
|
NM_000161.3(GCH1):c.671A>G (p.Lys224Arg)
|
rs41298442
|
0.00039
|
NM_000277.3(PAH):c.1139C>T (p.Thr380Met)
|
rs62642937
|
0.00036
|
NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)
|
rs137853027
|
0.00026
|
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro)
|
rs139632595
|
0.00026
|
NM_001182.5(ALDH7A1):c.1279G>C (p.Glu427Gln)
|
rs121912707
|
0.00024
|
NM_001298.3(CNGA3):c.811C>G (p.Pro271Ala)
|
rs149802213
|
0.00022
|
NM_000231.3(SGCG):c.787G>A (p.Glu263Lys)
|
rs104894423
|
0.00016
|
NM_024753.5(TTC21B):c.626C>T (p.Pro209Leu)
|
rs140511594
|
0.00011
|
NM_152564.5(VPS13B):c.6657+1G>A
|
rs180177366
|
0.00010
|
NM_177550.5(SLC13A5):c.655G>A (p.Gly219Arg)
|
rs144332569
|
0.00009
|
NM_000157.4(GBA1):c.115+1G>A
|
rs104886460
|
0.00006
|
NM_000310.4(PPT1):c.541G>A (p.Val181Met)
|
rs148412181
|
0.00006
|
NM_000520.6(HEXA):c.533G>A (p.Arg178His)
|
rs28941770
|
0.00005
|
NM_177550.5(SLC13A5):c.680C>T (p.Thr227Met)
|
rs587777577
|
0.00004
|
NM_000317.3(PTS):c.338A>G (p.Tyr113Cys)
|
rs762894736
|
0.00003
|
NM_000359.3(TGM1):c.968G>A (p.Arg323Gln)
|
rs121918717
|
0.00003
|
NM_004646.4(NPHS1):c.2417C>A (p.Ala806Asp)
|
rs386833912
|
0.00002
|
NM_000181.4(GUSB):c.1145G>A (p.Arg382His)
|
rs764018631
|
0.00001
|
NM_000317.3(PTS):c.78G>T (p.Leu26Phe)
|
rs1317230624
|
0.00001
|
NM_000487.6(ARSA):c.883G>A (p.Gly295Ser)
|
rs199476349
|
0.00001
|
NM_001252024.2(TRPM1):c.1263G>A (p.Pro421=)
|
rs768701595
|
0.00001
|
NM_002633.3(PGM1):c.1495C>T (p.Arg499Ter)
|
rs745993071
|
0.00001
|
NM_004985.5(KRAS):c.38G>A (p.Gly13Asp)
|
rs112445441
|
0.00001
|
NM_005273.4(GNB2):c.217G>A (p.Ala73Thr)
|
rs1424516740
|
0.00001
|
NM_005591.4(MRE11):c.350A>G (p.Asn117Ser)
|
rs137852760
|
0.00001
|
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly)
|
rs267607048
|
0.00001
|
NM_152564.5(VPS13B):c.10081dup (p.Thr3361fs)
|
rs386834055
|
0.00001
|
NC_012920.1:m.11778G>A
|
rs199476112
|
|
NM_000152.5(GAA):c.2238G>C (p.Trp746Cys)
|
rs1800312
|
|
NM_000394.4(CRYAA):c.34C>T (p.Arg12Cys)
|
rs397515624
|
|
NM_000435.3(NOTCH3):c.1672C>T (p.Arg558Cys)
|
rs75068032
|
|
NM_000528.4(MAN2B1):c.418C>T (p.Arg140Ter)
|
rs370803545
|
|
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys)
|
rs1555408401
|
|
NM_001110792.2(MECP2):c.799C>T (p.Arg267Ter)
|
rs61749721
|
|
NM_001134673.4(NFIA):c.361C>T (p.Arg121Cys)
|
rs886039429
|
|
NM_001197104.2(KMT2A):c.3464G>A (p.Cys1155Tyr)
|
rs1057518074
|
|
NM_001244008.2(KIF1A):c.643A>C (p.Ser215Arg)
|
rs672601367
|
|
NM_001244008.2(KIF1A):c.914C>T (p.Pro305Leu)
|
rs1131690804
|
|
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter)
|
rs1135401808
|
|
NM_001318852.2(MAPK8IP3):c.1735C>T (p.Arg579Cys)
|
rs1567203083
|
|
NM_001371246.1(SCN2A):c.634A>G (p.Asn212Asp)
|
rs1553567473
|
|
NM_001371928.1(AHDC1):c.2062C>T (p.Arg688Ter)
|
rs1165205177
|
|
NM_001655.5(ARCN1):c.654-15A>G
|
rs1591385240
|
|
NM_001943.5(DSG2):c.3059_3062del (p.Glu1020fs)
|
rs397516706
|
|
NM_002709.3(PPP1CB):c.146C>G (p.Pro49Arg)
|
rs886037952
|
|
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val)
|
rs397507547
|
|
NM_003011.4(SET):c.130_133del (p.Arg44fs)
|
rs1554776342
|
|
NM_003470.3(USP7):c.2596C>T (p.Gln866Ter)
|
rs2141167019
|
|
NM_003718.5(CDK13):c.2525A>G (p.Asn842Ser)
|
rs878853160
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln)
|
rs724160021
|
|
NM_004333.6(BRAF):c.1914T>A (p.Asp638Glu)
|
rs180177042
|
|
NM_005633.4(SOS1):c.1300G>A (p.Gly434Arg)
|
rs397517148
|
|
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu)
|
rs397517172
|
|
NM_005912.3(MC4R):c.811T>C (p.Cys271Arg)
|
rs1057517991
|
|
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys)
|
rs104886003
|
|
NM_006245.4(PPP2R5D):c.592G>A (p.Glu198Lys)
|
|
|
NM_006593.4(TBR1):c.1118A>G (p.Gln373Arg)
|
rs1553510492
|
|
NM_007144.3(PCGF2):c.194C>T (p.Pro65Leu)
|
|
|
NM_013275.6(ANKRD11):c.3931C>T (p.Arg1311Ter)
|
rs2034353033
|
|
NM_014363.6(SACS):c.262C>T (p.Arg88Ter)
|
rs1555255676
|
|
NM_015100.4(POGZ):c.3456_3457del (p.Glu1154fs)
|
rs869320764
|
|
NM_015570.4(AUTS2):c.376C>T (p.Arg126Ter)
|
rs1562957809
|
|
NM_017780.4(CHD7):c.2572C>T (p.Arg858Ter)
|
rs1563625351
|
|
NM_017780.4(CHD7):c.7164+1G>A
|
rs2129644267
|
|
NM_017946.4(FKBP14):c.362dup (p.Glu122fs)
|
rs542489955
|
|
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp)
|
rs398123009
|
|
NM_019026.6(TMCO1):c.139_140del (p.Gln46_Ser47insTer)
|
rs752176040
|
|
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)
|
rs587777695
|
|
NM_022455.5(NSD1):c.6455G>A (p.Arg2152Gln)
|
rs587784200
|
|
NM_023110.3(FGFR1):c.1638C>A (p.Asn546Lys)
|
rs779707422
|
|
NM_172107.4(KCNQ2):c.794C>T (p.Ala265Val)
|
rs587777219
|
|
NM_182931.3(KMT2E):c.1099_1103dup (p.Glu369fs)
|
rs1797574932
|
|
Single allele
|
|
|