NM_001983.4(ERCC1):c.796G>A (p.Ala266Thr)
|
rs3212977
|
0.00150
|
NM_001206999.2(CIT):c.5405C>T (p.Thr1802Met)
|
rs180716474
|
0.00016
|
NM_020680.4(SCYL1):c.1507T>C (p.Cys503Arg)
|
rs374754187
|
0.00016
|
NM_014687.4(RUBCN):c.1642A>G (p.Thr548Ala)
|
rs767982852
|
0.00005
|
NM_001171.6(ABCC6):c.4441G>A (p.Gly1481Ser)
|
rs63751279
|
0.00004
|
NM_022124.6(CDH23):c.1450-10G>A
|
rs751220612
|
0.00004
|
NM_001199107.2(TBC1D24):c.325C>T (p.Arg109Cys)
|
rs372337277
|
0.00003
|
NM_015665.6(AAAS):c.43C>A (p.Gln15Lys)
|
rs121918549
|
0.00003
|
NM_017721.5(CC2D1A):c.490C>T (p.Arg164Trp)
|
rs781491587
|
0.00002
|
NM_005585.5(SMAD6):c.1024C>T (p.Arg342Cys)
|
rs1333091798
|
0.00001
|
NM_014687.4(RUBCN):c.319G>A (p.Glu107Lys)
|
rs1114167292
|
0.00001
|
NM_014780.5(CUL7):c.1144C>T (p.Arg382Ter)
|
rs1023630527
|
0.00001
|
NM_016239.4(MYO15A):c.4429C>T (p.Arg1477Cys)
|
rs774077101
|
0.00001
|
NM_000180.4(GUCY2D):c.2978del (p.Met993fs)
|
rs1598151437
|
|
NM_001039141.3(TRIOBP):c.536G>C (p.Arg179Pro)
|
rs773013563
|
|
NM_001139.3(ALOX12B):c.1958T>G (p.Phe653Cys)
|
rs1598176834
|
|
NM_001206999.2(CIT):c.3350+5G>A
|
rs1565958864
|
|
NM_001206999.2(CIT):c.4354A>C (p.Thr1452Pro)
|
rs1593442207
|
|
NM_001378789.1(CERS3):c.530C>T (p.Ser177Phe)
|
rs1178676096
|
|
NM_005876.5(SPEG):c.9028_9030del (p.Glu3010del)
|
rs1575202038
|
|
NM_006019.4(TCIRG1):c.1630G>A (p.Val544Met)
|
rs371505143
|
|
NM_014956.5(CEP164):c.76G>A (p.Glu26Lys)
|
rs1565416876
|
|
NM_015474.4(SAMHD1):c.571A>G (p.Ile191Val)
|
rs1303667371
|
|
NM_018136.5(ASPM):c.10118GTT[1] (p.Cys3374del)
|
rs1385075246
|
|
NM_020247.5(COQ8A):c.1867_1869dup (p.Leu623dup)
|
rs1558212011
|
|
NM_020964.3(EPG5):c.1640C>T (p.Ser547Phe)
|
rs1599633287
|
|
NM_021942.6(TRAPPC11):c.1208-5C>G
|
rs185570336
|
|
NM_032119.4(ADGRV1):c.17402G>A (p.Ser5801Asn)
|
rs749894314
|
|
NM_033337.3(CAV3):c.302G>T (p.Trp101Leu)
|
rs1575477812
|
|
NM_138694.4(PKHD1):c.4454G>A (p.Ser1485Asn)
|
rs370608473
|
|
NM_144508.5(KNL1):c.2538A>C (p.Lys846Asn)
|
rs1892588636
|
|
NM_153816.6(SNX14):c.1809A>G (p.Ala603=)
|
rs1582696313
|
|