|
NM_001163278.2(TENM1):c.3273G>T (p.Gln1091His)
|
rs151041633
|
0.00006
|
|
NM_004070.4(CLCNKA):c.55C>T (p.Gln19Ter)
|
rs202069201
|
0.00006
|
|
NM_001297732.2(COX18):c.908G>A (p.Arg303His)
|
rs746878533
|
0.00004
|
|
NM_017640.6(CARMIL1):c.3245G>A (p.Arg1082Gln)
|
rs527331116
|
0.00004
|
|
NM_007109.3(TCF19):c.482G>A (p.Arg161Gln)
|
rs779159917
|
0.00002
|
|
NM_147196.3(TMIE):c.250C>T (p.Arg84Trp)
|
rs28942097
|
0.00002
|
|
NM_001035.3(RYR2):c.5189C>T (p.Thr1730Met)
|
rs745569662
|
0.00001
|
|
NM_001145026.2(PTPRQ):c.6024G>A (p.Ser2008=)
|
rs1238341806
|
0.00001
|
|
NM_002979.5(SCP2):c.686A>G (p.Asp229Gly)
|
rs762454467
|
0.00001
|
|
NM_000260.4(MYO7A):c.5442T>G (p.Tyr1814Ter)
|
rs1407313220
|
|
|
NM_000283.4(PDE6B):c.1060-1G>T
|
rs863223339
|
|
|
NM_000350.3(ABCA4):c.2927del (p.Leu976fs)
|
rs863223338
|
|
|
NM_000784.4(CYP27A1):c.332C>G (p.Ala111Gly)
|
rs1441761338
|
|
|
NM_000787.4(DBH):c.1486C>T (p.Pro496Ser)
|
rs2131294957
|
|
|
NM_001001548.3(CD36):c.1187C>G (p.Ser396Ter)
|
|
|
|
NM_001029883.3(PCARE):c.712A>T (p.Lys238Ter)
|
rs863223344
|
|
|
NM_001031710.3(KLHL7):c.249del (p.Phe83fs)
|
rs1583657698
|
|
|
NM_001146079.2(CLDN14):c.40_41insTGGTGCACGGCCGTGCA (p.Ser14fs)
|
rs2146412304
|
|
|
NM_001288772.2(PIK3C2G):c.3480+1G>T
|
|
|
|
NM_001363118.2(SLC52A2):c.973T>G (p.Cys325Gly)
|
rs1554854341
|
|
|
NM_001386393.1(PANK2):c.962T>C (p.Phe321Ser)
|
rs863223343
|
|
|
NM_001851.6(COL9A1):c.2644del (p.Val882fs)
|
rs2127544065
|
|
|
NM_004618.5(TOP3A):c.1651G>A (p.Val551Met)
|
rs1047455569
|
|
|
NM_005447.4(RASSF9):c.893_894del (p.Ile298fs)
|
|
|
|
NM_006269.2(RP1):c.679T>G (p.Phe227Val)
|
rs863223340
|
|
|
NM_014714.4(IFT140):c.3827G>A (p.Gly1276Glu)
|
rs779007169
|
|
|
NM_017433.5(MYO3A):c.1370_1371del (p.Arg457fs)
|
rs760866131
|
|
|
NM_020353.3(PLSCR4):c.301C>T (p.Pro101Ser)
|
rs2108241382
|
|
|
NM_020632.3(ATP6V0A4):c.707AGA[1] (p.Lys237del)
|
rs746982385
|
|
|
NM_020718.4(USP31):c.2533A>G (p.Ser845Gly)
|
rs1236242968
|
|
|
NM_022437.3(ABCG8):c.562G>C (p.Val188Leu)
|
|
|
|
NM_024071.4(ZFYVE21):c.604_607dup (p.Val203fs)
|
|
|
|
NM_024678.6(NARS2):c.1339A>G (p.Met447Val)
|
rs953849956
|
|
|
NM_147196.3(TMIE):c.122_125dup (p.Pro43fs)
|
rs876661301
|
|
|
NM_201253.3(CRB1):c.1459dup (p.Ser487fs)
|
rs863223342
|
|
|
NM_201253.3(CRB1):c.2783G>A (p.Cys928Tyr)
|
rs863223341
|
|
|
NM_207034.3(EDN3):c.293C>T (p.Thr98Met)
|
rs745795470
|
|