|
NM_015202.5(KATNIP):c.4711A>G (p.Ser1571Gly)
|
rs138866758
|
0.00009
|
|
NM_015202.5(KATNIP):c.49C>T (p.Arg17Ter)
|
rs142375551
|
0.00008
|
|
NM_001077418.3(TMEM231):c.664+4A>G
|
rs760426025
|
0.00005
|
|
NM_001077418.3(TMEM231):c.664G>A (p.Val222Ile)
|
rs397514753
|
0.00005
|
|
NM_001352754.2(ARMC9):c.1028G>A (p.Arg343His)
|
rs763548326
|
0.00004
|
|
NM_001044385.3(TMEM237):c.806C>T (p.Ala269Val)
|
rs768672107
|
0.00003
|
|
NM_001329943.3(KIAA0586):c.3580C>T (p.Gln1194Ter)
|
rs373763986
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.3850C>T (p.Arg1284Cys)
|
rs779823379
|
0.00002
|
|
NM_001378615.1(CC2D2A):c.4688C>G (p.Pro1563Arg)
|
rs886059186
|
0.00002
|
|
NM_024809.5(TCTN2):c.1506-2A>G
|
rs374349989
|
0.00002
|
|
NM_001134831.2(AHI1):c.1828C>T (p.Arg610Ter)
|
rs751734985
|
0.00001
|
|
NM_001134831.2(AHI1):c.1981T>C (p.Ser661Pro)
|
rs1785745572
|
0.00001
|
|
NM_019892.6(INPP5E):c.1303C>T (p.Arg435Trp)
|
rs756789619
|
0.00001
|
|
NM_001044385.3(TMEM237):c.137-2A>G
|
|
|
|
NM_001044385.3(TMEM237):c.62del (p.Pro21fs)
|
rs1574587553
|
|
|
NM_001044385.3(TMEM237):c.869+1G>A
|
rs730882231
|
|
|
NM_001077418.3(TMEM231):c.664+1G>A
|
|
|
|
NM_001082538.3(TCTN1):c.1635+1G>A
|
|
|
|
NM_001082538.3(TCTN1):c.342-2A>G
|
rs730882221
|
|
|
NM_001082538.3(TCTN1):c.978+1G>T
|
rs886039436
|
|
|
NM_001134831.2(AHI1):c.1051C>T (p.Arg351Ter)
|
rs121434348
|
|
|
NM_001134831.2(AHI1):c.1328T>A (p.Val443Asp)
|
rs121434350
|
|
|
NM_001134831.2(AHI1):c.1432T>C (p.Phe478Leu)
|
|
|
|
NM_001134831.2(AHI1):c.2037-1G>C
|
rs1784918128
|
|
|
NM_001134831.2(AHI1):c.2361G>A (p.Trp787Ter)
|
rs863225146
|
|
|
NM_001352754.2(ARMC9):c.51+5G>T
|
rs1114167447
|
|
|
NM_001378615.1(CC2D2A):c.2339-2A>C
|
rs1719092280
|
|
|
NM_001378615.1(CC2D2A):c.3084del (p.Lys1029fs)
|
rs386833749
|
|
|
NM_001378615.1(CC2D2A):c.3160C>A (p.Pro1054Thr)
|
rs1719718448
|
|
|
NM_001378615.1(CC2D2A):c.3364C>T (p.Pro1122Ser)
|
rs118204051
|
|
|
NM_001378615.1(CC2D2A):c.3643A>C (p.Ser1215Arg)
|
rs765661601
|
|
|
NM_001378615.1(CC2D2A):c.3992A>G (p.Tyr1331Cys)
|
rs1720848250
|
|
|
NM_001378615.1(CC2D2A):c.4437+1G>A
|
rs786205568
|
|
|
NM_001384732.1(CPLANE1):c.4629T>G (p.Phe1543Leu)
|
rs1783222163
|
|
|
NM_001384732.1(CPLANE1):c.7778G>A (p.Trp2593Ter)
|
rs863225159
|
|
|
NM_001384732.1(CPLANE1):c.8150_8151del (p.Gly2717fs)
|
rs730882217
|
|
|
NM_001384732.1(CPLANE1):c.994_996del (p.Met332del)
|
rs1797611349
|
|
|
NM_015202.5(KATNIP):c.3151C>A (p.Pro1051Thr)
|
|
|
|
NM_015272.5(RPGRIP1L):c.3396del (p.Gln1132_Val1133insTer)
|
|
|
|
NM_016464.5(TMEM138):c.401A>G (p.Tyr134Cys)
|
|
|
|
NM_019892.6(INPP5E):c.136G>T (p.Glu46Ter)
|
|
|
|
NM_019892.6(INPP5E):c.1442G>A (p.Arg481His)
|
|
|
|
NM_024809.5(TCTN2):c.1852C>T (p.Gln618Ter)
|
rs1956235509
|
|
|
NM_152730.6(TBC1D32):c.3724C>T (p.Arg1242Ter)
|
|
|
|
NM_173348.2(FAM149B1):c.1402C>T (p.Arg468Ter)
|
|
|