|
NM_014625.4(NPHS2):c.686G>A (p.Arg229Gln)
|
rs61747728
|
0.02796
|
|
NM_004621.6(TRPC6):c.172C>T (p.Arg58Trp)
|
rs117273916
|
0.00082
|
|
NM_014669.5(NUP93):c.1772G>T (p.Gly591Val)
|
rs145473779
|
0.00014
|
|
NM_024876.4(COQ8B):c.1035+3A>G
|
rs368182892
|
0.00009
|
|
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp)
|
rs398122978
|
0.00004
|
|
NM_024876.4(COQ8B):c.737G>A (p.Ser246Asn)
|
rs200841458
|
0.00004
|
|
NM_014625.4(NPHS2):c.871C>T (p.Arg291Trp)
|
rs74315348
|
0.00001
|
|
NM_016341.4(PLCE1):c.1477C>T (p.Arg493Ter)
|
rs121912601
|
0.00001
|
|
NM_024876.4(COQ8B):c.893+2T>A
|
rs759259550
|
0.00001
|
|
NM_000278.5(PAX2):c.154T>C (p.Cys52Arg)
|
|
|
|
NM_000278.5(PAX2):c.212+1G>T
|
|
|
|
NM_000278.5(PAX2):c.213-8C>A
|
|
|
|
NM_000278.5(PAX2):c.239C>A (p.Pro80Gln)
|
rs1554856032
|
|
|
NM_000278.5(PAX2):c.263C>G (p.Pro88Arg)
|
|
|
|
NM_000278.5(PAX2):c.337G>T (p.Glu113Ter)
|
|
|
|
NM_000278.5(PAX2):c.383_384del (p.Thr128fs)
|
|
|
|
NM_000278.5(PAX2):c.76dup (p.Val26fs)
|
rs75462234
|
|
|
NM_000278.5(PAX2):c.92G>C (p.Arg31Pro)
|
|
|
|
NM_004621.6(TRPC6):c.1394T>C (p.Phe465Ser)
|
rs2136690942
|
|
|
NM_004621.6(TRPC6):c.1891_1894del (p.Val631fs)
|
|
|
|
NM_004621.6(TRPC6):c.430G>C (p.Glu144Gln)
|
|
|
|
NM_004621.6(TRPC6):c.523C>T (p.Arg175Trp)
|
rs869025541
|
|
|
NM_004621.6(TRPC6):c.644G>A (p.Arg215Gln)
|
rs1860201767
|
|
|
NM_004621.6(TRPC6):c.991G>A (p.Gly331Arg)
|
|
|
|
NM_014625.4(NPHS2):c.467dup (p.Leu156fs)
|
rs528833893
|
|
|
NM_014625.4(NPHS2):c.547G>T (p.Asp183Tyr)
|
rs2125784628
|
|
|
NM_014625.4(NPHS2):c.938C>T (p.Ser313Leu)
|
rs2125765231
|
|
|
NM_014669.5(NUP93):c.1573C>T (p.Arg525Trp)
|
|
|
|
NM_014669.5(NUP93):c.1899G>A (p.Lys633=)
|
|
|
|
NM_016341.4(PLCE1):c.5078_5079insGAGGAAAAGG (p.Ser1696fs)
|
|
|
|
NM_018685.5(ANLN):c.1588A>C (p.Lys530Gln)
|
rs2116638569
|
|
|
NM_020401.4(NUP107):c.1451_1453del (p.Gly484del)
|
|
|
|
NM_020401.4(NUP107):c.727A>G (p.Thr243Ala)
|
|
|
|
NM_024426.6(WT1):c.1367T>G (p.Phe456Cys)
|
|
|
|
NM_024426.6(WT1):c.1384C>T (p.Gln462Ter)
|
|
|
|
NM_024426.6(WT1):c.1394T>C (p.Phe465Ser)
|
|
|
|
NM_024426.6(WT1):c.1399C>T (p.Arg467Trp)
|
rs121907900
|
|
|
NM_024426.6(WT1):c.1447+4C>T
|
rs587776577
|
|
|
NM_024426.6(WT1):c.1504G>C (p.Asp502His)
|
|
|
|
NM_024426.6(WT1):c.1534C>T (p.Gln512Ter)
|
rs2132897818
|
|
|
NM_024426.6(WT1):c.392C>T (p.Pro131Leu)
|
|
|
|
NM_024426.6(WT1):c.896T>A (p.Leu299Ter)
|
|
|
|
NM_024876.4(COQ8B):c.1084C>T (p.Arg362Ter)
|
|
|
|
NM_024876.4(COQ8B):c.1297-2A>G
|
|
|
|
NM_024876.4(COQ8B):c.1430G>A (p.Arg477Gln)
|
rs1057519347
|
|
|
NM_024876.4(COQ8B):c.1465C>T (p.His489Tyr)
|
|
|
|
NM_024876.4(COQ8B):c.1468C>T (p.Arg490Cys)
|
|
|
|
NM_024876.4(COQ8B):c.33del (p.Thr12fs)
|
|
|
|
NM_024876.4(COQ8B):c.538C>T (p.Arg180Cys)
|
rs866812916
|
|
|
NM_024876.4(COQ8B):c.748G>C (p.Asp250His)
|
rs769834604
|
|
|
NM_173689.7(CRB2):c.1813C>T (p.Arg605Cys)
|
|
|