|
NM_002292.4(LAMB2):c.4304C>T (p.Pro1435Leu)
|
rs140968382
|
0.00032
|
|
NM_002292.4(LAMB2):c.2432G>A (p.Arg811His)
|
rs201223945
|
0.00014
|
|
NM_005726.6(TSFM):c.644C>T (p.Ser215Phe)
|
rs376562033
|
0.00011
|
|
NM_014625.4(NPHS2):c.779T>A (p.Val260Glu)
|
rs775006954
|
0.00011
|
|
NM_182476.3(COQ6):c.782C>T (p.Pro261Leu)
|
rs371260604
|
0.00011
|
|
NM_004646.4(NPHS1):c.3478C>T (p.Arg1160Ter)
|
rs267606919
|
0.00010
|
|
NM_003901.4(SGPL1):c.1204G>A (p.Ala402Thr)
|
rs761684028
|
0.00006
|
|
NM_004646.4(NPHS1):c.2590C>T (p.Arg864Cys)
|
rs752712664
|
0.00004
|
|
NM_016341.4(PLCE1):c.1180C>T (p.Arg394Cys)
|
rs761213168
|
0.00004
|
|
NM_016341.4(PLCE1):c.1496G>A (p.Arg499His)
|
rs757336023
|
0.00004
|
|
NM_024876.4(COQ8B):c.737G>A (p.Ser246Asn)
|
rs200841458
|
0.00004
|
|
NM_002292.4(LAMB2):c.2296G>A (p.Ala766Thr)
|
rs763101025
|
0.00002
|
|
NM_004646.4(NPHS1):c.1379G>A (p.Arg460Gln)
|
rs386833880
|
0.00002
|
|
NM_004646.4(NPHS1):c.2464G>A (p.Val822Met)
|
rs267606918
|
0.00001
|
|
NM_014625.4(NPHS2):c.538G>A (p.Val180Met)
|
rs74315347
|
0.00001
|
|
NM_018230.3(NUP133):c.3095T>C (p.Ile1032Thr)
|
rs1306327701
|
0.00001
|
|
NM_018230.3(NUP133):c.3359C>T (p.Pro1120Leu)
|
rs763031414
|
0.00001
|
|
NM_020401.4(NUP107):c.2492A>C (p.Asp831Ala)
|
rs864321632
|
0.00001
|
|
NM_020401.4(NUP107):c.580C>T (p.Arg194Ter)
|
rs774346160
|
0.00001
|
|
NM_000278.5(PAX2):c.175C>T (p.Arg59Trp)
|
rs2133833948
|
|
|
NM_000278.5(PAX2):c.574G>C (p.Gly192Arg)
|
rs1589848170
|
|
|
NM_000278.5(PAX2):c.76dup (p.Val26fs)
|
rs75462234
|
|
|
NM_000278.5(PAX2):c.791del (p.Gln264fs)
|
rs2133950639
|
|
|
NM_000278.5(PAX2):c.869del (p.Pro290fs)
|
rs2133956351
|
|
|
NM_002292.4(LAMB2):c.130del (p.Arg44fs)
|
rs2107645768
|
|
|
NM_002292.4(LAMB2):c.1488del (p.Leu496_Val497insTer)
|
rs2107643014
|
|
|
NM_002292.4(LAMB2):c.173G>A (p.Arg58Gln)
|
rs2107645705
|
|
|
NM_002292.4(LAMB2):c.4033C>T (p.Arg1345Cys)
|
rs775469931
|
|
|
NM_002292.4(LAMB2):c.4904_4905del (p.Thr1635fs)
|
rs2107628870
|
|
|
NM_003647.3(DGKE):c.322T>A (p.Cys108Ser)
|
|
|
|
NM_004621.6(TRPC6):c.2415_2418del (p.Asn805fs)
|
|
|
|
NM_004621.6(TRPC6):c.2678G>T (p.Ser893Ile)
|
rs1591517921
|
|
|
NM_004621.6(TRPC6):c.434A>G (p.His145Arg)
|
rs1565221486
|
|
|
NM_004646.4(NPHS1):c.1367G>A (p.Arg456Gln)
|
|
|
|
NM_004646.4(NPHS1):c.1758-10G>A
|
rs2146823474
|
|
|
NM_004646.4(NPHS1):c.1931-16G>A
|
rs1392236567
|
|
|
NM_004646.4(NPHS1):c.2156_2163del (p.Leu719fs)
|
rs386833903
|
|
|
NM_004646.4(NPHS1):c.2402T>A (p.Leu801Gln)
|
rs2146819820
|
|
|
NM_004646.4(NPHS1):c.2543A>C (p.Lys848Thr)
|
|
|
|
NM_004646.4(NPHS1):c.2765C>A (p.Ala922Asp)
|
rs2146818958
|
|
|
NM_004646.4(NPHS1):c.3385A>C (p.Thr1129Pro)
|
rs786205518
|
|
|
NM_004646.4(NPHS1):c.728C>T (p.Pro243Leu)
|
rs919999972
|
|
|
NM_004646.4(NPHS1):c.869del (p.Gly290fs)
|
rs2146827686
|
|
|
NM_004924.6(ACTN4):c.445A>G (p.Ile149Val)
|
|
|
|
NM_004924.6(ACTN4):c.493G>A (p.Ala165Thr)
|
|
|
|
NM_005560.6(LAMA5):c.6883C>T (p.Gln2295Ter)
|
|
|
|
NM_012120.3(CD2AP):c.1742dup (p.Asn581fs)
|
rs773479372
|
|
|
NM_012301.4(MAGI2):c.4264_4297del (p.Ala1422fs)
|
rs1808058702
|
|
|
NM_014625.4(NPHS2):c.1A>T (p.Met1Leu)
|
rs2101887841
|
|
|
NM_014625.4(NPHS2):c.352C>T (p.Pro118Ser)
|
rs2125790124
|
|
|
NM_014625.4(NPHS2):c.467dup (p.Leu156fs)
|
rs528833893
|
|
|
NM_014697.3(NOS1AP):c.1259G>C (p.Gly420Ala)
|
rs2101832815
|
|
|
NM_016341.4(PLCE1):c.5363dup (p.Tyr1788Ter)
|
rs2133537931
|
|
|
NM_018230.3(NUP133):c.196C>T (p.Arg66Ter)
|
rs760521214
|
|
|
NM_018230.3(NUP133):c.691C>G (p.Arg231Gly)
|
rs1558108130
|
|
|
NM_020401.4(NUP107):c.469G>T (p.Asp157Tyr)
|
rs864321633
|
|
|
NM_020401.4(NUP107):c.824_826del (p.Ser275del)
|
|
|
|
NM_022489.4(INF2):c.604A>G (p.Asn202Asp)
|
|
|
|
NM_022489.4(INF2):c.640C>T (p.Arg214Cys)
|
rs912928648
|
|
|
NM_022489.4(INF2):c.653G>A (p.Arg218Gln)
|
rs267607183
|
|
|
NM_024426.6(WT1):c.1388G>C (p.Arg463Pro)
|
rs1037084691
|
|
|
NM_024426.6(WT1):c.1405G>A (p.Asp469Asn)
|
rs28941778
|
|
|
NM_024426.6(WT1):c.1447+5G>A
|
rs587776576
|
|
|
NM_024876.4(COQ8B):c.271C>T (p.Arg91Cys)
|
|
|
|
NM_024876.4(COQ8B):c.451G>A (p.Gly151Arg)
|
|
|
|
NM_024876.4(COQ8B):c.853T>C (p.Cys285Arg)
|
|
|
|
NM_182476.3(COQ6):c.189_191del (p.Lys64del)
|
rs746839544
|
|
|
NM_182476.3(COQ6):c.643C>T (p.Arg215Trp)
|
rs769890899
|
|