Chr Mutation (hg38) CAid Gene Transcript Linkouts
19g.35826452delCA2576758555NPHS1c.*63del (n.*63del)
c.3789del (n.3789del)
19g.35826452A>GCA2584601213NPHS1c.*62T>C (n.*62T>C)
c.3788T>C (n.3788T>C)
 gnomAD v4
19g.35826453T>ACA2584601214NPHS1c.*61A>T (n.*61A>T)
c.3787A>T (n.3787A>T)
 gnomAD v4
19g.35826453T>GCA2584601215NPHS1c.*61A>C (n.*61A>C)
c.3787A>C (n.3787A>C)
 gnomAD v4
19g.35826454G>TCA2584601216NPHS1c.*60C>A (n.*60C>A)
c.3786C>A (n.3786C>A)
 gnomAD v4
19g.35826460_35826461delCA2576758556NPHS1c.*59_*60del (n.*59_*60del)
c.3785_3786del (n.3785_3786del)
 gnomAD v4
19g.35826458G>CCA2333839978NPHS1c.*56C>G (n.*56C>G)
c.3782C>G (n.3782C>G)
 dbSNP
19g.35826458G=CA2333839977NPHS1c.*56C= (n.*56C=)
c.3782C= (n.3782C=)
19g.35826459A>GCA2584601217NPHS1c.*55T>C (n.*55T>C)
c.3781T>C (n.3781T>C)
 dbSNP gnomAD v4
19g.35826460G=CA2333839979NPHS1c.*54C= (n.*54C=)
c.3780C= (n.3780C=)
19g.35826460G>TCA881816909NPHS1c.*54C>A (n.*54C>A)
c.3780C>A (n.3780C>A)
 dbSNP gnomAD v3 gnomAD v4
19g.35826462C>ACA2576758558NPHS1c.*52G>T (n.*52G>T)
c.3778G>T (n.3778G>T)
 gnomAD v4
19g.35826462C>TCA2584601218NPHS1c.*52G>A (n.*52G>A)
c.3778G>A (n.3778G>A)
 gnomAD v4
19g.35826463delCA2576758557NPHS1c.*52del (n.*52del)
c.3778del (n.3778del)
19g.35826463C=CA2333839980NPHS1c.*51G= (n.*51G=)
c.3777G= (n.3777G=)
19g.35826463C>GCA881816913NPHS1c.*51G>C (n.*51G>C)
c.3777G>C (n.3777G>C)
 dbSNP gnomAD v3 gnomAD v4
19g.35826465G>ACA2584601219NPHS1c.*49C>T (n.*49C>T)
c.3775C>T (n.3775C>T)
 gnomAD v4
19g.35826467G>ACA2741627545NPHS1c.*47C>T (n.*47C>T)
c.3773C>T (n.3773C>T)
19g.35826468G>CCA9389647NPHS1c.*46C>G (n.*46C>G)
c.3772C>G (n.3772C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35826468G=CA2333839981NPHS1c.*46C= (n.*46C=)
c.3772C= (n.3772C=)
19g.35826468G>TCA307827391NPHS1c.*46C>A (n.*46C>A)
c.3772C>A (n.3772C>A)
 dbSNP gnomAD v3 gnomAD v4
19g.35826469A=CA2333839982NPHS1c.*45T= (n.*45T=)
c.3771T= (n.3771T=)
19g.35826469A>GCA632774958NPHS1c.*45T>C (n.*45T>C)
c.3771T>C (n.3771T>C)
 dbSNP gnomAD v2 gnomAD v4
19g.35826469A>TCA307827393NPHS1c.*45T>A (n.*45T>A)
c.3771T>A (n.3771T>A)
 dbSNP gnomAD v3 gnomAD v4
19g.35826471T>CCA2584601220NPHS1c.*43A>G (n.*43A>G)
c.3769A>G (n.3769A>G)
 gnomAD v4
19g.35826472G>ACA9389648NPHS1c.*42C>T (n.*42C>T)
c.3768C>T (n.3768C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.35826472G=CA2333839983NPHS1c.*42C= (n.*42C=)
c.3768C= (n.3768C=)
19g.35826476A=CA2333839984NPHS1c.*38T= (n.*38T=)
c.3764T= (n.3764T=)
19g.35826476A>GCA881816917NPHS1c.*38T>C (n.*38T>C)
c.3764T>C (n.3764T>C)
 dbSNP gnomAD v4
19g.35826479C=CA2333839985NPHS1c.*35G= (n.*35G=)
c.3761G= (n.3761G=)
19g.35826479C>TCA9389649NPHS1c.*35G>A (n.*35G>A)
c.3761G>A (n.3761G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35826480C>TCA2584601221NPHS1c.*34G>A (n.*34G>A)
c.3760G>A (n.3760G>A)
 gnomAD v4
19g.35826481T>ACA9389650NPHS1c.*33A>T (n.*33A>T)
c.3759A>T (n.3759A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.35826481T>CCA995489045NPHS1c.*33A>G (n.*33A>G)
c.3759A>G (n.3759A>G)
 dbSNP gnomAD v3 gnomAD v4
19g.35826481T=CA2333839986NPHS1c.*33A= (n.*33A=)
c.3759A= (n.3759A=)
19g.35826482G>ACA9389651NPHS1c.*32C>T (n.*32C>T)
c.3758C>T (n.3758C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.35826482G=CA2333839987NPHS1c.*32C= (n.*32C=)
c.3758C= (n.3758C=)
19g.35826483C=CA2333839988NPHS1c.*31G= (n.*31G=)
c.3757G= (n.3757G=)
19g.35826483C>GCA9389652NPHS1c.*31G>C (n.*31G>C)
c.3757G>C (n.3757G>C)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35826484A>GCA2736056820NPHS1c.*30T>C (n.*30T>C)
c.3756T>C (n.3756T>C)
 dbSNP
19g.35826485G>ACA2584601222NPHS1c.*29C>T (n.*29C>T)
c.3755C>T (n.3755C>T)
 gnomAD v4
19g.35826485G>CCA2576758559NPHS1c.*29C>G (n.*29C>G)
c.3755C>G (n.3755C>G)
19g.35826486G>CCA2576758560NPHS1c.*28C>G (n.*28C>G)
c.3754C>G (n.3754C>G)
 gnomAD v4
19g.35826488G>ACA2584601223NPHS1c.*26C>T (n.*26C>T)
c.3752C>T (n.3752C>T)
 gnomAD v4
19g.35826488G>TCA657129106NPHS1c.*26C>A (n.*26C>A)
c.3752C>A (n.3752C>A)
 COSMIC
19g.35826491G>ACA2333839990NPHS1c.*23C>T (n.*23C>T)
c.3749C>T (n.3749C>T)
 dbSNP gnomAD v4
19g.35826491G=CA2333839989NPHS1c.*23C= (n.*23C=)
c.3749C= (n.3749C=)
19g.35826493A>GCA2576758561NPHS1c.*21T>C (n.*21T>C)
c.3747T>C (n.3747T>C)
19g.35826494C>ACA632775033NPHS1c.*20G>T (n.*20G>T)
c.3746G>T (n.3746G>T)
 dbSNP gnomAD v2 gnomAD v4
19g.35826494C=CA2333839991NPHS1c.*20G= (n.*20G=)
c.3746G= (n.3746G=)
19g.35826494C>TCA881816919NPHS1c.*20G>A (n.*20G>A)
c.3746G>A (n.3746G>A)
 dbSNP gnomAD v3 gnomAD v4
19g.35826495A=CA2333839992NPHS1c.*19T= (n.*19T=)
c.3745T= (n.3745T=)
19g.35826495A>GCA2584601224NPHS1c.*19T>C (n.*19T>C)
c.3745T>C (n.3745T>C)
 gnomAD v4
19g.35826495A>TCA9389653NPHS1c.*19T>A (n.*19T>A)
c.3745T>A (n.3745T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35826496A=CA2333839993NPHS1c.*18T= (n.*18T=)
c.3744T= (n.3744T=)
19g.35826496A>GCA9389654NPHS1c.*18T>C (n.*18T>C)
c.3744T>C (n.3744T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.35826496A>TCA307827403NPHS1c.*18T>A (n.*18T>A)
c.3744T>A (n.3744T>A)
 dbSNP
19g.35826497T>CCA2576758562NPHS1c.*17A>G (n.*17A>G)
c.3743A>G (n.3743A>G)
 gnomAD v4
19g.35826497T>GCA2736056828NPHS1c.*17A>C (n.*17A>C)
c.3743A>C (n.3743A>C)
 dbSNP
19g.35826498G>ACA2584601225NPHS1c.*16C>T (n.*16C>T)
c.3742C>T (n.3742C>T)
 gnomAD v4
19g.35826498G=CA2333839994NPHS1c.*16C= (n.*16C=)
c.3742C= (n.3742C=)
19g.35826498_35826499insTCA632775034NPHS1c.*15_*16insA (n.*15_*16insA)
c.3741_3742insA (n.3741_3742insA)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35826499G>ACA2584601226NPHS1c.*15C>T (n.*15C>T)
c.3741C>T (n.3741C>T)
 gnomAD v4
19g.35826499G=CA2333839995NPHS1c.*15C= (n.*15C=)
c.3741C= (n.3741C=)
19g.35826499G>TCA632775035NPHS1c.*15C>A (n.*15C>A)
c.3741C>A (n.3741C>A)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35826500G>ACA9389655NPHS1c.*14C>T (n.*14C>T)
c.3740C>T (n.3740C>T)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35826500G=CA2333839996NPHS1c.*14C= (n.*14C=)
c.3740C= (n.3740C=)
19g.35826501G>ACA2333839998NPHS1c.*13C>T (n.*13C>T)
c.3739C>T (n.3739C>T)
 dbSNP gnomAD v4
19g.35826501G>CCA2576758563NPHS1c.*13C>G (n.*13C>G)
c.3739C>G (n.3739C>G)
19g.35826501G=CA2333839997NPHS1c.*13C= (n.*13C=)
c.3739C= (n.3739C=)
19g.35826502T>ACA632775036NPHS1c.*12A>T (n.*12A>T)
c.3738A>T (n.3738A>T)
 dbSNP gnomAD v2 gnomAD v4
19g.35826502T=CA2333839999NPHS1c.*12A= (n.*12A=)
c.3738A= (n.3738A=)
19g.35826504G>ACA9389656NPHS1c.*10C>T (n.*10C>T)
c.3736C>T (n.3736C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.35826504G=CA2333840001NPHS1c.*10C= (n.*10C=)
c.3736C= (n.3736C=)
19g.35826504_35826520delinsGAGAGGGCTCTTACACCCA2333840000NPHS1c.3720_*10delinsGGTGTAAGAGCCCTCTC (n.[c.3720_*10delinsGGTGTAAGAGCCCTCTC;Leu1240=])
c.3600_*10delinsGGTGTAAGAGCCCTCTC (n.[c.3600_*10delinsGGTGTAAGAGCCCTCTC;Leu1200=])
c.3720_3736delinsGGTGTAAGAGCCCTCTC (n.[c.3720_3736delinsGGTGTAAGAGCCCTCTC;Leu1240=])
19g.35826508_35826523delCA250235NPHS1c.3720_*9del (n.[c.3720_*9del;Val1241AsnfsTer?])
c.3600_*9del (n.[c.3600_*9del;Val1201AsnfsTer?])
c.3720_3735del (n.[c.3720_3735del;Val1241AsnfsTer?])
 ClinVar dbSNP
19g.35826506G>CCA9389657NPHS1c.*8C>G (n.*8C>G)
c.3734C>G (n.3734C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35826506G=CA2333840002NPHS1c.*8C= (n.*8C=)
c.3734C= (n.3734C=)
19g.35826506G>TCA881816936NPHS1c.*8C>A (n.*8C>A)
c.3734C>A (n.3734C>A)
 dbSNP
19g.35826508G>CCA2584601227NPHS1c.*6C>G (n.*6C>G)
c.3732C>G (n.3732C>G)
 gnomAD v4
19g.35826509G>ACA2584601228NPHS1c.*5C>T (n.*5C>T)
c.3731C>T (n.3731C>T)
 gnomAD v4
19g.35826510G=CA2333840003NPHS1c.*4C= (n.*4C=)
c.3730C= (n.3730C=)
19g.35826510G>TCA632775037NPHS1c.*4C>A (n.*4C>A)
c.3730C>A (n.3730C>A)
 dbSNP gnomAD v2 gnomAD v4
19g.35826511C>ACA2584601229NPHS1c.*3G>T (n.*3G>T)
c.3729G>T (n.3729G>T)
 gnomAD v4
19g.35826513C=CA2333840004NPHS1c.*1G= (n.*1G=)
c.3727G= (n.3727G=)
19g.35826513C>GCA2584601230NPHS1c.*1G>C (n.*1G>C)
c.3727G>C (n.3727G>C)
 gnomAD v4
19g.35826513C>TCA9389658NPHS1c.*1G>A (n.*1G>A)
c.3727G>A (n.3727G>A)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.35826514T>ACA405414958NPHS1c.3726A>T (p.Ter1242Tyr)
c.3606A>T (p.Ter1202Tyr)
19g.35826514T>CCA507091249NPHS1c.3726A>G (p.Ter1242=)
c.3606A>G (p.Ter1202=)
19g.35826514T>GCA405414955NPHS1c.3726A>C (p.Ter1242Tyr)
c.3606A>C (p.Ter1202Tyr)
19g.35826515T>ACA405414959NPHS1c.3725A>T (p.Ter1242Leu)
c.3605A>T (p.Ter1202Leu)
19g.35826515T>CCA507091252NPHS1c.3725A>G (p.Ter1242=)
c.3605A>G (p.Ter1202=)
 dbSNP
19g.35826515T>GCA405414962NPHS1c.3725A>C (p.Ter1242Ser)
c.3605A>C (p.Ter1202Ser)
19g.35826516A=CA2333840005NPHS1c.3724T= (p.Ter1242=)
c.3604T= (p.Ter1202=)
19g.35826516A>CCA405414965NPHS1c.3724T>G (p.Ter1242Glu)
c.3604T>G (p.Ter1202Glu)
19g.35826516A>GCA405414968NPHS1c.3724T>C (p.Ter1242Gln)
c.3604T>C (p.Ter1202Gln)
19g.35826516A>TCA405414970NPHS1c.3724T>A (p.Ter1242Lys)
c.3604T>A (p.Ter1202Lys)
19g.35826517C>ACA507091254NPHS1c.3723G>T (p.Val1241=)
c.3603G>T (p.Val1201=)
 gnomAD v4
19g.35826517C=CA2333840006NPHS1c.3723G= (p.Val1241=)
c.3603G= (p.Val1201=)
19g.35826517C>GCA507091255NPHS1c.3723G>C (p.Val1241=)
c.3603G>C (p.Val1201=)
19g.35826517C>TCA9389660NPHS1c.3723G>A (p.Val1241=)
c.3603G>A (p.Val1201=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.35826519_35826521dupCA9389659NPHS1c.3721_3723dup (p.Val1241_Ter1242insVal)
c.3601_3603dup (p.Val1201_Ter1202insVal)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.35826518A=CA2333840007NPHS1c.3722T= (p.Val1241=)
c.3602T= (p.Val1201=)
19g.35826518A>CCA405414976NPHS1c.3722T>G (p.Val1241Gly)
c.3602T>G (p.Val1201Gly)
19g.35826518A>GCA9389661NPHS1c.3722T>C (p.Val1241Ala)
c.3602T>C (p.Val1201Ala)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35826518A>TCA405414978NPHS1c.3722T>A (p.Val1241Glu)
c.3602T>A (p.Val1201Glu)
19g.35826519C>ACA405414981NPHS1c.3721G>T (p.Val1241Leu)
c.3601G>T (p.Val1201Leu)
19g.35826519C=CA2333840008NPHS1c.3721G= (p.Val1241=)
c.3601G= (p.Val1201=)
19g.35826519C>GCA405414984NPHS1c.3721G>C (p.Val1241Leu)
c.3601G>C (p.Val1201Leu)
19g.35826519C>TCA9389662NPHS1c.3721G>A (p.Val1241Met)
c.3601G>A (p.Val1201Met)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35826520C>ACA507091258NPHS1c.3720G>T (p.Leu1240=)
c.3600G>T (p.Leu1200=)
19g.35826520C>GCA507091259NPHS1c.3720G>C (p.Leu1240=)
c.3600G>C (p.Leu1200=)
 gnomAD v4
19g.35826520C>TCA507091260NPHS1c.3720G>A (p.Leu1240=)
c.3600G>A (p.Leu1200=)
 ClinVar
19g.35826521A>CCA405414987NPHS1c.3719T>G (p.Leu1240Arg)
c.3599T>G (p.Leu1200Arg)
19g.35826521A>GCA405414991NPHS1c.3719T>C (p.Leu1240Pro)
c.3599T>C (p.Leu1200Pro)
19g.35826521A>TCA405414989NPHS1c.3719T>A (p.Leu1240Gln)
c.3599T>A (p.Leu1200Gln)
19g.35826522G>ACA507091261NPHS1c.3718C>T (p.Leu1240=)
c.3598C>T (p.Leu1200=)
19g.35826522G>CCA405414992NPHS1c.3718C>G (p.Leu1240Val)
c.3598C>G (p.Leu1200Val)
19g.35826522G>TCA405414993NPHS1c.3718C>A (p.Leu1240Met)
c.3598C>A (p.Leu1200Met)
19g.35826523A=CA2333840009NPHS1c.3717T= (p.His1239=)
c.3597T= (p.His1199=)
19g.35826523A>CCA405414995NPHS1c.3717T>G (p.His1239Gln)
c.3597T>G (p.His1199Gln)
19g.35826523A>GCA507091262NPHS1c.3717T>C (p.His1239=)
c.3597T>C (p.His1199=)
 gnomAD v4
19g.35826523A>TCA9389663NPHS1c.3717T>A (p.His1239Gln)
c.3597T>A (p.His1199Gln)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.35826524T>ACA9389664NPHS1c.3716A>T (p.His1239Leu)
c.3596A>T (p.His1199Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35826524T>CCA405414997NPHS1c.3716A>G (p.His1239Arg)
c.3596A>G (p.His1199Arg)
 dbSNP
19g.35826524T>GCA405414998NPHS1c.3716A>C (p.His1239Pro)
c.3596A>C (p.His1199Pro)
19g.35826524T=CA2333840010NPHS1c.3716A= (p.His1239=)
c.3596A= (p.His1199=)
19g.35826525G>ACA405414999NPHS1c.3715C>T (p.His1239Tyr)
c.3595C>T (p.His1199Tyr)
19g.35826525G>CCA405415000NPHS1c.3715C>G (p.His1239Asp)
c.3595C>G (p.His1199Asp)
19g.35826525G>TCA405415001NPHS1c.3715C>A (p.His1239Asn)
c.3595C>A (p.His1199Asn)
 gnomAD v4
19g.35826526T>ACA507091265NPHS1c.3714A>T (p.Gly1238=)
c.3594A>T (p.Gly1198=)
19g.35826526T>CCA507091266NPHS1c.3714A>G (p.Gly1238=)
c.3594A>G (p.Gly1198=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
19g.35826526T>GCA9389665NPHS1c.3714A>C (p.Gly1238=)
c.3594A>C (p.Gly1198=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35826526T=CA2333840011NPHS1c.3714A= (p.Gly1238=)
c.3594A= (p.Gly1198=)
19g.35826527C>ACA405415002NPHS1c.3713G>T (p.Gly1238Val)
c.3593G>T (p.Gly1198Val)
19g.35826527C=CA2333840012NPHS1c.3713G= (p.Gly1238=)
c.3593G= (p.Gly1198=)
19g.35826527C>GCA405415003NPHS1c.3713G>C (p.Gly1238Ala)
c.3593G>C (p.Gly1198Ala)
19g.35826527C>TCA9389666NPHS1c.3713G>A (p.Gly1238Glu)
c.3593G>A (p.Gly1198Glu)
 dbSNP ExAC gnomAD v2 gnomAD v4
19g.35826528C>ACA405415005NPHS1c.3712G>T (p.Gly1238Ter)
c.3592G>T (p.Gly1198Ter)
 ClinVar dbSNP COSMIC
19g.35826528C=CA2333840013NPHS1c.3712G= (p.Gly1238=)
c.3592G= (p.Gly1198=)
19g.35826528C>GCA405415004NPHS1c.3712G>C (p.Gly1238Arg)
c.3592G>C (p.Gly1198Arg)
19g.35826528C>TCA405415006NPHS1c.3712G>A (p.Gly1238Arg)
c.3592G>A (p.Gly1198Arg)
 dbSNP gnomAD v3 gnomAD v4
19g.35826529C>ACA405415007NPHS1c.3711G>T (p.Arg1237Ser)
c.3591G>T (p.Arg1197Ser)
19g.35826529C>GCA405415008NPHS1c.3711G>C (p.Arg1237Ser)
c.3591G>C (p.Arg1197Ser)
19g.35826529C>TCA507091269NPHS1c.3711G>A (p.Arg1237=)
c.3591G>A (p.Arg1197=)
19g.35826530C>ACA405415009NPHS1c.3710G>T (p.Arg1237Met)
c.3590G>T (p.Arg1197Met)
19g.35826530C>GCA405415010NPHS1c.3710G>C (p.Arg1237Thr)
c.3590G>C (p.Arg1197Thr)
19g.35826530C>TCA405415011NPHS1c.3710G>A (p.Arg1237Lys)
c.3590G>A (p.Arg1197Lys)
19g.35826531T>ACA405415012NPHS1c.3709A>T (p.Arg1237Trp)
c.3589A>T (p.Arg1197Trp)
19g.35826531T>CCA405415013NPHS1c.3709A>G (p.Arg1237Gly)
c.3589A>G (p.Arg1197Gly)
19g.35826531T>GCA507091271NPHS1c.3709A>C (p.Arg1237=)
c.3589A>C (p.Arg1197=)
19g.35826532C>ACA507091272NPHS1c.3708G>T (p.Leu1236=)
c.3588G>T (p.Leu1196=)
19g.35826532C=CA2333840014NPHS1c.3708G= (p.Leu1236=)
c.3588G= (p.Leu1196=)
19g.35826532C>GCA507091273NPHS1c.3708G>C (p.Leu1236=)
c.3588G>C (p.Leu1196=)
19g.35826532C>TCA507091274NPHS1c.3708G>A (p.Leu1236=)
c.3588G>A (p.Leu1196=)
 ClinVar dbSNP gnomAD v4
19g.35826533A>CCA405415014NPHS1c.3707T>G (p.Leu1236Arg)
c.3587T>G (p.Leu1196Arg)
19g.35826533A>GCA405415016NPHS1c.3707T>C (p.Leu1236Pro)
c.3587T>C (p.Leu1196Pro)
19g.35826533A>TCA405415015NPHS1c.3707T>A (p.Leu1236Gln)
c.3587T>A (p.Leu1196Gln)
19g.35826534G>ACA507091275NPHS1c.3706C>T (p.Leu1236=)
c.3586C>T (p.Leu1196=)
19g.35826534G>CCA405415017NPHS1c.3706C>G (p.Leu1236Val)
c.3586C>G (p.Leu1196Val)
19g.35826534G>TCA405415018NPHS1c.3706C>A (p.Leu1236Met)
c.3586C>A (p.Leu1196Met)
19g.35826535C>ACA405415019NPHS1c.3705G>T (p.Glu1235Asp)
c.3585G>T (p.Glu1195Asp)
19g.35826535C>GCA405415020NPHS1c.3705G>C (p.Glu1235Asp)
c.3585G>C (p.Glu1195Asp)
19g.35826535C>TCA507091277NPHS1c.3705G>A (p.Glu1235=)
c.3585G>A (p.Glu1195=)
19g.35826536T>ACA405415023NPHS1c.3704A>T (p.Glu1235Val)
c.3584A>T (p.Glu1195Val)
19g.35826536T>CCA405415021NPHS1c.3704A>G (p.Glu1235Gly)
c.3584A>G (p.Glu1195Gly)
19g.35826536T>GCA405415022NPHS1c.3704A>C (p.Glu1235Ala)
c.3584A>C (p.Glu1195Ala)
19g.35826537C>ACA405415024NPHS1c.3703G>T (p.Glu1235Ter)
c.3583G>T (p.Glu1195Ter)
19g.35826537C=CA2333840015NPHS1c.3703G= (p.Glu1235=)
c.3583G= (p.Glu1195=)
19g.35826537C>GCA405415025NPHS1c.3703G>C (p.Glu1235Gln)
c.3583G>C (p.Glu1195Gln)
19g.35826537C>TCA9389667NPHS1c.3703G>A (p.Glu1235Lys)
c.3583G>A (p.Glu1195Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
19g.35826538G>ACA9389668NPHS1c.3702C>T (p.Phe1234=)
c.3582C>T (p.Phe1194=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
19g.35826538G>CCA405415026NPHS1c.3702C>G (p.Phe1234Leu)
c.3582C>G (p.Phe1194Leu)
19g.35826538G=CA2333840016NPHS1c.3702C= (p.Phe1234=)
c.3582C= (p.Phe1194=)
19g.35826538G>TCA405415027NPHS1c.3702C>A (p.Phe1234Leu)
c.3582C>A (p.Phe1194Leu)
 gnomAD v4
19g.35826539A>CCA405415028NPHS1c.3701T>G (p.Phe1234Cys)
c.3581T>G (p.Phe1194Cys)
 gnomAD v4
19g.35826539A>GCA405415029NPHS1c.3701T>C (p.Phe1234Ser)
c.3581T>C (p.Phe1194Ser)
19g.35826539A>TCA405415030NPHS1c.3701T>A (p.Phe1234Tyr)
c.3581T>A (p.Phe1194Tyr)
19g.35826540delCA2582342952NPHS1c.3701del (p.Phe1234SerfsTer3)
c.3581del (p.Phe1194SerfsTer3)
 ClinVar
19g.35826540A>CCA405415031NPHS1c.3700T>G (p.Phe1234Val)
c.3580T>G (p.Phe1194Val)
19g.35826540A>GCA405415032NPHS1c.3700T>C (p.Phe1234Leu)
c.3580T>C (p.Phe1194Leu)
19g.35826540A>TCA405415033NPHS1c.3700T>A (p.Phe1234Ile)
c.3580T>A (p.Phe1194Ile)
19g.35826541G>ACA507091283NPHS1c.3699C>T (p.Pro1233=)
c.3579C>T (p.Pro1193=)
 ClinVar dbSNP gnomAD v4
19g.35826541G>CCA507091282NPHS1c.3699C>G (p.Pro1233=)
c.3579C>G (p.Pro1193=)
19g.35826541G=CA2333840017NPHS1c.3699C= (p.Pro1233=)
c.3579C= (p.Pro1193=)
19g.35826541G>TCA507091281NPHS1c.3699C>A (p.Pro1233=)
c.3579C>A (p.Pro1193=)
19g.35826543delCA2584601231NPHS1c.3699del (p.Phe1234SerfsTer3)
c.3579del (p.Phe1194SerfsTer3)
 ClinVar gnomAD v4
19g.35826542G>ACA405415034NPHS1c.3698C>T (p.Pro1233Leu)
c.3578C>T (p.Pro1193Leu)
 gnomAD v4 COSMIC
19g.35826542G>CCA405415036NPHS1c.3698C>G (p.Pro1233Arg)
c.3578C>G (p.Pro1193Arg)
19g.35826542G>TCA405415035NPHS1c.3698C>A (p.Pro1233His)
c.3578C>A (p.Pro1193His)
19g.35826543G>ACA405415037NPHS1c.3697C>T (p.Pro1233Ser)
c.3577C>T (p.Pro1193Ser)
19g.35826543G>CCA405415038NPHS1c.3697C>G (p.Pro1233Ala)
c.3577C>G (p.Pro1193Ala)
19g.35826543G>TCA405415039NPHS1c.3697C>A (p.Pro1233Thr)
c.3577C>A (p.Pro1193Thr)
 gnomAD v4
19g.35826544C>ACA507091284NPHS1c.3696G>T (p.Leu1232=)
c.3576G>T (p.Leu1192=)
19g.35826544C>GCA507091286NPHS1c.3696G>C (p.Leu1232=)
c.3576G>C (p.Leu1192=)
19g.35826544C>TCA507091285NPHS1c.3696G>A (p.Leu1232=)
c.3576G>A (p.Leu1192=)
 gnomAD v4
19g.35826545A>CCA405415040NPHS1c.3695T>G (p.Leu1232Arg)
c.3575T>G (p.Leu1192Arg)
19g.35826545A>GCA405415041NPHS1c.3695T>C (p.Leu1232Pro)
c.3575T>C (p.Leu1192Pro)
19g.35826545A>TCA405415042NPHS1c.3695T>A (p.Leu1232Gln)
c.3575T>A (p.Leu1192Gln)
19g.35826546G>ACA507091289NPHS1c.3694C>T (p.Leu1232=)
c.3574C>T (p.Leu1192=)
19g.35826546G>CCA405415043NPHS1c.3694C>G (p.Leu1232Val)
c.3574C>G (p.Leu1192Val)
19g.35826546G>TCA405415044NPHS1c.3694C>A (p.Leu1232Met)
c.3574C>A (p.Leu1192Met)
 COSMIC
19g.35826547A>CCA507091290NPHS1c.3693T>G (p.Ser1231=)
c.3573T>G (p.Ser1191=)
19g.35826547A>GCA507091291NPHS1c.3693T>C (p.Ser1231=)
c.3573T>C (p.Ser1191=)
 ClinVar dbSNP gnomAD v4
19g.35826547A>TCA507091292NPHS1c.3693T>A (p.Ser1231=)
c.3573T>A (p.Ser1191=)
19g.35826548G>ACA405415045NPHS1c.3692C>T (p.Ser1231Phe)
c.3572C>T (p.Ser1191Phe)
 COSMIC
19g.35826548G>CCA405415046NPHS1c.3692C>G (p.Ser1231Cys)
c.3572C>G (p.Ser1191Cys)
19g.35826548G>TCA405415047NPHS1c.3692C>A (p.Ser1231Tyr)
c.3572C>A (p.Ser1191Tyr)
19g.35826549A>CCA405415050NPHS1c.3691T>G (p.Ser1231Ala)
c.3571T>G (p.Ser1191Ala)
19g.35826549A>GCA405415049NPHS1c.3691T>C (p.Ser1231Pro)
c.3571T>C (p.Ser1191Pro)
 gnomAD v4
19g.35826549A>TCA405415048NPHS1c.3691T>A (p.Ser1231Thr)
c.3571T>A (p.Ser1191Thr)
19g.35826550A>CCA405415051NPHS1c.3690T>G (p.Asp1230Glu)
c.3570T>G (p.Asp1190Glu)
19g.35826550A>GCA507091293NPHS1c.3690T>C (p.Asp1230=)
c.3570T>C (p.Asp1190=)
19g.35826550A>TCA405415052NPHS1c.3690T>A (p.Asp1230Glu)
c.3570T>A (p.Asp1190Glu)
19g.35826551T>ACA405415053NPHS1c.3689A>T (p.Asp1230Val)
c.3569A>T (p.Asp1190Val)
19g.35826551T>CCA405415054NPHS1c.3689A>G (p.Asp1230Gly)
c.3569A>G (p.Asp1190Gly)
19g.35826551T>GCA405415055NPHS1c.3689A>C (p.Asp1230Ala)
c.3569A>C (p.Asp1190Ala)
19g.35826552C>ACA405415056NPHS1c.3688G>T (p.Asp1230Tyr)
c.3568G>T (p.Asp1190Tyr)
 dbSNP
19g.35826552C=CA2333840018NPHS1c.3688G= (p.Asp1230=)
c.3568G= (p.Asp1190=)
19g.35826552C>GCA405415057NPHS1c.3688G>C (p.Asp1230His)
c.3568G>C (p.Asp1190His)
19g.35826552C>TCA307827427NPHS1c.3688G>A (p.Asp1230Asn)
c.3568G>A (p.Asp1190Asn)
 dbSNP gnomAD v3 gnomAD v4 COSMIC

Number of alleles fetched