NM_153700.2(STRC):c.179T>C (p.Phe60Ser)
|
rs2729509
|
0.34286
|
NM_001145809.2(MYH14):c.3468-3C>T
|
rs78192108
|
0.01724
|
NM_001243133.2(NLRP3):c.592G>A (p.Val198Met)
|
rs121908147
|
0.00835
|
NM_001114086.2(CLIC5):c.237A>T (p.Arg79Ser)
|
rs41271277
|
0.00309
|
NM_194248.3(OTOF):c.245G>A (p.Arg82His)
|
rs149766574
|
0.00237
|
NM_001039141.3(TRIOBP):c.815C>A (p.Thr272Lys)
|
rs140901235
|
0.00119
|
NM_001384474.1(LOXHD1):c.4480C>T (p.Arg1494Ter)
|
rs201587138
|
0.00069
|
NM_001039141.3(TRIOBP):c.6362C>T (p.Ser2121Leu)
|
rs201724032
|
0.00036
|
NM_006005.3(WFS1):c.1079G>A (p.Cys360Tyr)
|
rs147157374
|
0.00029
|
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)
|
rs80338948
|
0.00021
|
NM_194248.3(OTOF):c.2498A>T (p.Gln833Leu)
|
rs191568463
|
0.00019
|
NM_001038603.3(MARVELD2):c.1498C>T (p.Arg500Ter)
|
rs118203957
|
0.00009
|
NM_016929.5(CLIC5):c.334A>G (p.Asn112Asp)
|
rs564438778
|
0.00008
|
NM_001145809.2(MYH14):c.2845C>T (p.Arg949Cys)
|
rs755994602
|
0.00006
|
NM_004086.3(COCH):c.1150C>T (p.Arg384Cys)
|
rs756541797
|
0.00006
|
NM_153676.4(USH1C):c.308G>A (p.Arg103His)
|
rs397514500
|
0.00006
|
NM_001146079.2(CLDN14):c.301G>A (p.Gly101Arg)
|
rs74315438
|
0.00004
|
NM_017433.5(MYO3A):c.3155G>A (p.Arg1052Gln)
|
rs267602452
|
0.00003
|
NM_138691.3(TMC1):c.236+1G>A
|
rs775428246
|
0.00003
|
NM_182548.4(LHFPL5):c.327T>G (p.Ile109Met)
|
rs760970028
|
0.00003
|
NM_001042517.2(DIAPH3):c.1342C>T (p.Arg448Ter)
|
rs750355652
|
0.00002
|
NM_001042517.2(DIAPH3):c.1439C>G (p.Thr480Arg)
|
rs766502252
|
0.00002
|
NM_000260.4(MYO7A):c.439C>T (p.Arg147Cys)
|
rs782808261
|
0.00001
|
NM_001145809.2(MYH14):c.1462G>T (p.Ala488Ser)
|
rs887619644
|
0.00001
|
NM_001393500.2(TOMT):c.439G>A (p.Gly147Ser)
|
rs529549122
|
0.00001
|
NM_004526.4(MCM2):c.1624C>T (p.Arg542Ter)
|
rs755835919
|
0.00001
|
NM_016239.4(MYO15A):c.8614G>A (p.Val2872Met)
|
rs368088727
|
0.00001
|
NM_194248.3(OTOF):c.61G>A (p.Ala21Thr)
|
rs778670384
|
0.00001
|
NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter)
|
rs786204581
|
|
NM_001039141.3(TRIOBP):c.2061_2132del (p.Ser688_Pro711del)
|
rs1569041188
|
|
NM_001039141.3(TRIOBP):c.2064C>A (p.Ser688Arg)
|
rs1555896093
|
|
NM_001145026.2(PTPRQ):c.386T>G (p.Ile129Ser)
|
rs1555180294
|
|
NM_001199107.2(TBC1D24):c.346A>T (p.Lys116Ter)
|
rs1567411469
|
|
NM_001384140.1(PCDH15):c.2361TGT[2] (p.Val790del)
|
rs483352837
|
|
NM_001384140.1(PCDH15):c.4990dup (p.Met1664fs)
|
rs766484375
|
|
NM_001384474.1(LOXHD1):c.2913_2921del (p.Glu976_Glu978del)
|
rs753461629
|
|
NM_002473.6(MYH9):c.4747AAG[2] (p.Lys1585del)
|
rs770925540
|
|
NM_004004.6(GJB2):c.35del (p.Gly12fs)
|
rs80338939
|
|
NM_005219.5(DIAPH1):c.2107C>T (p.Pro703Ser)
|
rs201433617
|
|
NM_015404.4(WHRN):c.1469G>A (p.Arg490His)
|
rs587776360
|
|
NM_016239.3(MYO15A):c.419dup (p.Phe141Valfs)
|
rs750130520
|
|
NM_080680.3(COL11A2):c.2754del (p.Gly919fs)
|
rs1562336726
|
|
NM_144672.4(OTOA):c.1820C>T (p.Ala607Val)
|
rs764347046
|
|
NM_144672.4(OTOA):c.1831T>C (p.Trp611Arg)
|
rs1567391195
|
|
NM_174916.3(UBR1):c.5019C>G (p.Cys1673Trp)
|
rs963383651
|
|