|
NM_207346.3(TSEN54):c.409A>C (p.Ile137Leu)
|
rs11559205
|
0.09934
|
|
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala)
|
rs141138948
|
0.00048
|
|
NM_015631.6(TCTN3):c.283A>C (p.Thr95Pro)
|
rs749447795
|
0.00024
|
|
NM_001378615.1(CC2D2A):c.4667A>T (p.Asp1556Val)
|
rs201502401
|
0.00020
|
|
NM_020320.5(RARS2):c.754T>A (p.Tyr252Asn)
|
rs140692271
|
0.00018
|
|
NM_016111.4(TELO2):c.1100G>T (p.Cys367Phe)
|
rs202020308
|
0.00016
|
|
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile)
|
rs34647222
|
0.00014
|
|
NM_005559.4(LAMA1):c.485G>A (p.Arg162His)
|
rs759415734
|
0.00011
|
|
NM_015631.6(TCTN3):c.1774C>G (p.Leu592Val)
|
rs375708075
|
0.00007
|
|
NM_001044385.3(TMEM237):c.52C>T (p.Arg18Ter)
|
rs199469707
|
0.00006
|
|
NM_016111.4(TELO2):c.392G>A (p.Gly131Asp)
|
rs187225056
|
0.00006
|
|
NM_020320.5(RARS2):c.35A>G (p.Gln12Arg)
|
rs147391618
|
0.00006
|
|
NM_001519.4(BRF1):c.1693G>T (p.Ala565Ser)
|
rs188142316
|
0.00004
|
|
NM_015272.5(RPGRIP1L):c.3707G>A (p.Arg1236His)
|
rs1410635948
|
0.00002
|
|
NM_033026.6(PCLO):c.6916A>G (p.Lys2306Glu)
|
rs747750190
|
0.00002
|
|
NM_003611.3(OFD1):c.1030C>T (p.Arg344Ter)
|
rs758903488
|
0.00001
|
|
NM_004958.4(MTOR):c.1081T>A (p.Cys361Ser)
|
rs778914291
|
0.00001
|
|
NM_004958.4(MTOR):c.5431C>T (p.Arg1811Cys)
|
rs1258909652
|
0.00001
|
|
NM_000435.3(NOTCH3):c.6405_6406del (p.Leu2137fs)
|
|
|
|
NM_001044385.3(TMEM237):c.1066dup (p.Gln356fs)
|
rs751952525
|
|
|
NM_001080522.2(CC2D2A):c.3289delG
|
rs386833751
|
|
|
NM_001134831.2(AHI1):c.1420del (p.Ile474fs)
|
rs1369440486
|
|
|
NM_001134831.2(AHI1):c.1829G>C (p.Arg610Pro)
|
rs374009466
|
|
|
NM_001134831.2(AHI1):c.2036+6T>G
|
rs2128037867
|
|
|
NM_001134831.2(AHI1):c.2501C>T (p.Ala834Val)
|
rs529407899
|
|
|
NM_001135146.2(SLC39A8):c.16_28del (p.Ala6fs)
|
|
|
|
NM_001367721.1(CASK):c.1665G>A (p.Met555Ile)
|
rs2147155700
|
|
|
NM_001368809.2(AMPD2):c.1198C>T (p.Gln400Ter)
|
rs1011286644
|
|
|
NM_001368809.2(AMPD2):c.2327del (p.Ile776fs)
|
rs1651209606
|
|
|
NM_001378615.1(CC2D2A):c.2010G>C (p.Glu670Asp)
|
rs763596840
|
|
|
NM_001378615.1(CC2D2A):c.2710G>T (p.Glu904Ter)
|
|
|
|
NM_001378615.1(CC2D2A):c.4256del (p.Gly1419fs)
|
rs772110399
|
|
|
NM_001378615.1(CC2D2A):c.438+1G>T
|
rs1453265480
|
|
|
NM_001378615.1(CC2D2A):c.4465_4468del (p.Asp1489fs)
|
rs797045437
|
|
|
NM_001759.4(CCND2):c.559C>G (p.Leu187Val)
|
|
|
|
NM_001759.4(CCND2):c.808A>T (p.Lys270Ter)
|
rs587777619
|
|
|
NM_002547.3(OPHN1):c.1202-1G>A
|
rs2147456067
|
|
|
NM_004958.4(MTOR):c.1060T>A (p.Ser354Thr)
|
|
|
|
NM_004958.4(MTOR):c.1256A>G (p.His419Arg)
|
|
|
|
NM_004958.4(MTOR):c.1951G>C (p.Val651Leu)
|
|
|
|
NM_004958.4(MTOR):c.5062C>T (p.Pro1688Ser)
|
rs2100477232
|
|
|
NM_004958.4(MTOR):c.5930C>A (p.Thr1977Lys)
|
rs587777893
|
|
|
NM_004958.4(MTOR):c.7253T>C (p.Leu2418Pro)
|
|
|
|
NM_004958.4(MTOR):c.7534G>C (p.Asp2512His)
|
|
|
|
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg)
|
rs587776934
|
|
|
NM_005465.7(AKT3):c.1393C>T (p.Arg465Trp)
|
rs587776935
|
|
|
NM_005559.4(LAMA1):c.4024G>C (p.Val1342Leu)
|
rs2144110328
|
|
|
NM_005559.4(LAMA1):c.6333dup (p.Gln2112fs)
|
|
|
|
NM_005559.4(LAMA1):c.7603G>A (p.Gly2535Ser)
|
|
|
|
NM_005559.4(LAMA1):c.9160T>C (p.Phe3054Leu)
|
|
|
|
NM_006218.4(PIK3CA):c.1132T>C (p.Cys378Arg)
|
rs1724507777
|
|
|
NM_006218.4(PIK3CA):c.2137A>G (p.Ile713Val)
|
|
|
|
NM_006218.4(PIK3CA):c.263G>A (p.Arg88Gln)
|
rs121913287
|
|
|
NM_014008.5(CCDC22):c.142G>A (p.Ala48Thr)
|
|
|
|
NM_014008.5(CCDC22):c.319C>T (p.Arg107Cys)
|
|
|
|
NM_014008.5(CCDC22):c.622G>A (p.Glu208Lys)
|
rs2147938135
|
|
|
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys)
|
rs1555582065
|
|
|
NM_015272.5(RPGRIP1L):c.530-1G>C
|
rs2151325787
|
|
|
NM_015631.6(TCTN3):c.322G>T (p.Asp108Tyr)
|
rs2139767280
|
|
|
NM_016042.4(EXOSC3):c.2T>G (p.Met1Arg)
|
|
|
|
NM_016042.4(EXOSC3):c.703G>A (p.Gly235Arg)
|
|
|
|
NM_016464.5(TMEM138):c.274A>C (p.Ser92Arg)
|
rs1858145836
|
|
|
NM_020320.5(RARS2):c.1511+3A>G
|
rs886061821
|
|
|
NM_020320.5(RARS2):c.25A>G (p.Ile9Val)
|
|
|
|
NM_025114.4(CEP290):c.7282_7286dup (p.Tyr2429Ter)
|
rs2136546576
|
|