Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35826452del | CA2576758555 | NPHS1 | c.*63del (n.*63del) c.3789del (n.3789del) | |
19 | g.35826452A>G | CA2584601213 | NPHS1 | c.*62T>C (n.*62T>C) c.3788T>C (n.3788T>C) | gnomAD v4 |
19 | g.35826453T>A | CA2584601214 | NPHS1 | c.*61A>T (n.*61A>T) c.3787A>T (n.3787A>T) | gnomAD v4 |
19 | g.35826453T>G | CA2584601215 | NPHS1 | c.*61A>C (n.*61A>C) c.3787A>C (n.3787A>C) | gnomAD v4 |
19 | g.35826454G>T | CA2584601216 | NPHS1 | c.*60C>A (n.*60C>A) c.3786C>A (n.3786C>A) | gnomAD v4 |
19 | g.35826460_35826461del | CA2576758556 | NPHS1 | c.*59_*60del (n.*59_*60del) c.3785_3786del (n.3785_3786del) | gnomAD v4 |
19 | g.35826458G>C | CA2333839978 | NPHS1 | c.*56C>G (n.*56C>G) c.3782C>G (n.3782C>G) | dbSNP |
19 | g.35826458G= | CA2333839977 | NPHS1 | c.*56C= (n.*56C=) c.3782C= (n.3782C=) | |
19 | g.35826459A>G | CA2584601217 | NPHS1 | c.*55T>C (n.*55T>C) c.3781T>C (n.3781T>C) | dbSNP gnomAD v4 |
19 | g.35826460G= | CA2333839979 | NPHS1 | c.*54C= (n.*54C=) c.3780C= (n.3780C=) | |
19 | g.35826460G>T | CA881816909 | NPHS1 | c.*54C>A (n.*54C>A) c.3780C>A (n.3780C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35826461A>C | CA2841058091 | NPHS1 | c.*53T>G (n.*53T>G) c.3779T>G (n.3779T>G) | |
19 | g.35826462C>A | CA2576758558 | NPHS1 | c.*52G>T (n.*52G>T) c.3778G>T (n.3778G>T) | gnomAD v4 |
19 | g.35826462C>T | CA2584601218 | NPHS1 | c.*52G>A (n.*52G>A) c.3778G>A (n.3778G>A) | gnomAD v4 |
19 | g.35826463del | CA2576758557 | NPHS1 | c.*52del (n.*52del) c.3778del (n.3778del) | |
19 | g.35826463C= | CA2333839980 | NPHS1 | c.*51G= (n.*51G=) c.3777G= (n.3777G=) | |
19 | g.35826463C>G | CA881816913 | NPHS1 | c.*51G>C (n.*51G>C) c.3777G>C (n.3777G>C) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35826465G>A | CA2584601219 | NPHS1 | c.*49C>T (n.*49C>T) c.3775C>T (n.3775C>T) | gnomAD v4 |
19 | g.35826467G>A | CA2741627545 | NPHS1 | c.*47C>T (n.*47C>T) c.3773C>T (n.3773C>T) | |
19 | g.35826468G>C | CA9389647 | NPHS1 | c.*46C>G (n.*46C>G) c.3772C>G (n.3772C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826468G= | CA2333839981 | NPHS1 | c.*46C= (n.*46C=) c.3772C= (n.3772C=) | |
19 | g.35826468G>T | CA307827391 | NPHS1 | c.*46C>A (n.*46C>A) c.3772C>A (n.3772C>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35826469A= | CA2333839982 | NPHS1 | c.*45T= (n.*45T=) c.3771T= (n.3771T=) | |
19 | g.35826469A>G | CA632774958 | NPHS1 | c.*45T>C (n.*45T>C) c.3771T>C (n.3771T>C) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35826469A>T | CA307827393 | NPHS1 | c.*45T>A (n.*45T>A) c.3771T>A (n.3771T>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35826471T>C | CA2584601220 | NPHS1 | c.*43A>G (n.*43A>G) c.3769A>G (n.3769A>G) | gnomAD v4 |
19 | g.35826472G>A | CA9389648 | NPHS1 | c.*42C>T (n.*42C>T) c.3768C>T (n.3768C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35826472G= | CA2333839983 | NPHS1 | c.*42C= (n.*42C=) c.3768C= (n.3768C=) | |
19 | g.35826476A= | CA2333839984 | NPHS1 | c.*38T= (n.*38T=) c.3764T= (n.3764T=) | |
19 | g.35826476A>G | CA881816917 | NPHS1 | c.*38T>C (n.*38T>C) c.3764T>C (n.3764T>C) | dbSNP gnomAD v4 |
19 | g.35826479C= | CA2333839985 | NPHS1 | c.*35G= (n.*35G=) c.3761G= (n.3761G=) | |
19 | g.35826479C>T | CA9389649 | NPHS1 | c.*35G>A (n.*35G>A) c.3761G>A (n.3761G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826480C>T | CA2584601221 | NPHS1 | c.*34G>A (n.*34G>A) c.3760G>A (n.3760G>A) | gnomAD v4 |
19 | g.35826481T>A | CA9389650 | NPHS1 | c.*33A>T (n.*33A>T) c.3759A>T (n.3759A>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35826481T>C | CA995489045 | NPHS1 | c.*33A>G (n.*33A>G) c.3759A>G (n.3759A>G) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35826481T= | CA2333839986 | NPHS1 | c.*33A= (n.*33A=) c.3759A= (n.3759A=) | |
19 | g.35826482G>A | CA9389651 | NPHS1 | c.*32C>T (n.*32C>T) c.3758C>T (n.3758C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35826482G= | CA2333839987 | NPHS1 | c.*32C= (n.*32C=) c.3758C= (n.3758C=) | |
19 | g.35826483C= | CA2333839988 | NPHS1 | c.*31G= (n.*31G=) c.3757G= (n.3757G=) | |
19 | g.35826483C>G | CA9389652 | NPHS1 | c.*31G>C (n.*31G>C) c.3757G>C (n.3757G>C) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826484A>G | CA2736056820 | NPHS1 | c.*30T>C (n.*30T>C) c.3756T>C (n.3756T>C) | dbSNP |
19 | g.35826485G>A | CA2584601222 | NPHS1 | c.*29C>T (n.*29C>T) c.3755C>T (n.3755C>T) | gnomAD v4 |
19 | g.35826485G>C | CA2576758559 | NPHS1 | c.*29C>G (n.*29C>G) c.3755C>G (n.3755C>G) | |
19 | g.35826486G>C | CA2576758560 | NPHS1 | c.*28C>G (n.*28C>G) c.3754C>G (n.3754C>G) | gnomAD v4 |
19 | g.35826488G>A | CA2584601223 | NPHS1 | c.*26C>T (n.*26C>T) c.3752C>T (n.3752C>T) | gnomAD v4 |
19 | g.35826488G>T | CA657129106 | NPHS1 | c.*26C>A (n.*26C>A) c.3752C>A (n.3752C>A) | COSMIC |
19 | g.35826491G>A | CA2333839990 | NPHS1 | c.*23C>T (n.*23C>T) c.3749C>T (n.3749C>T) | dbSNP gnomAD v4 |
19 | g.35826491G= | CA2333839989 | NPHS1 | c.*23C= (n.*23C=) c.3749C= (n.3749C=) | |
19 | g.35826493A>G | CA2576758561 | NPHS1 | c.*21T>C (n.*21T>C) c.3747T>C (n.3747T>C) | |
19 | g.35826494C>A | CA632775033 | NPHS1 | c.*20G>T (n.*20G>T) c.3746G>T (n.3746G>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35826494C= | CA2333839991 | NPHS1 | c.*20G= (n.*20G=) c.3746G= (n.3746G=) | |
19 | g.35826494C>T | CA881816919 | NPHS1 | c.*20G>A (n.*20G>A) c.3746G>A (n.3746G>A) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35826495A= | CA2333839992 | NPHS1 | c.*19T= (n.*19T=) c.3745T= (n.3745T=) | |
19 | g.35826495A>G | CA2584601224 | NPHS1 | c.*19T>C (n.*19T>C) c.3745T>C (n.3745T>C) | gnomAD v4 |
19 | g.35826495A>T | CA9389653 | NPHS1 | c.*19T>A (n.*19T>A) c.3745T>A (n.3745T>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826496A= | CA2333839993 | NPHS1 | c.*18T= (n.*18T=) c.3744T= (n.3744T=) | |
19 | g.35826496A>G | CA9389654 | NPHS1 | c.*18T>C (n.*18T>C) c.3744T>C (n.3744T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35826496A>T | CA307827403 | NPHS1 | c.*18T>A (n.*18T>A) c.3744T>A (n.3744T>A) | dbSNP |
19 | g.35826497T>C | CA2576758562 | NPHS1 | c.*17A>G (n.*17A>G) c.3743A>G (n.3743A>G) | gnomAD v4 |
19 | g.35826497T>G | CA2736056828 | NPHS1 | c.*17A>C (n.*17A>C) c.3743A>C (n.3743A>C) | dbSNP |
19 | g.35826498G>A | CA2584601225 | NPHS1 | c.*16C>T (n.*16C>T) c.3742C>T (n.3742C>T) | gnomAD v4 |
19 | g.35826498G= | CA2333839994 | NPHS1 | c.*16C= (n.*16C=) c.3742C= (n.3742C=) | |
19 | g.35826498_35826499insT | CA632775034 | NPHS1 | c.*15_*16insA (n.*15_*16insA) c.3741_3742insA (n.3741_3742insA) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826499G>A | CA2584601226 | NPHS1 | c.*15C>T (n.*15C>T) c.3741C>T (n.3741C>T) | gnomAD v4 |
19 | g.35826499G= | CA2333839995 | NPHS1 | c.*15C= (n.*15C=) c.3741C= (n.3741C=) | |
19 | g.35826499G>T | CA632775035 | NPHS1 | c.*15C>A (n.*15C>A) c.3741C>A (n.3741C>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826500G>A | CA9389655 | NPHS1 | c.*14C>T (n.*14C>T) c.3740C>T (n.3740C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826500G= | CA2333839996 | NPHS1 | c.*14C= (n.*14C=) c.3740C= (n.3740C=) | |
19 | g.35826501G>A | CA2333839998 | NPHS1 | c.*13C>T (n.*13C>T) c.3739C>T (n.3739C>T) | dbSNP gnomAD v4 |
19 | g.35826501G>C | CA2576758563 | NPHS1 | c.*13C>G (n.*13C>G) c.3739C>G (n.3739C>G) | |
19 | g.35826501G= | CA2333839997 | NPHS1 | c.*13C= (n.*13C=) c.3739C= (n.3739C=) | |
19 | g.35826502T>A | CA632775036 | NPHS1 | c.*12A>T (n.*12A>T) c.3738A>T (n.3738A>T) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35826502T= | CA2333839999 | NPHS1 | c.*12A= (n.*12A=) c.3738A= (n.3738A=) | |
19 | g.35826504G>A | CA9389656 | NPHS1 | c.*10C>T (n.*10C>T) c.3736C>T (n.3736C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35826504G= | CA2333840001 | NPHS1 | c.*10C= (n.*10C=) c.3736C= (n.3736C=) | |
19 | g.35826504_35826520delinsGAGAGGGCTCTTACACC | CA2333840000 | NPHS1 | c.3720_*10delinsGGTGTAAGAGCCCTCTC (n.[c.3720_*10delinsGGTGTAAGAGCCCTCTC;Leu1240=]) c.3600_*10delinsGGTGTAAGAGCCCTCTC (n.[c.3600_*10delinsGGTGTAAGAGCCCTCTC;Leu1200=]) c.3720_3736delinsGGTGTAAGAGCCCTCTC (n.[c.3720_3736delinsGGTGTAAGAGCCCTCTC;Leu1240=]) | |
19 | g.35826508_35826523del | CA250235 | NPHS1 | c.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 |
19 | g.35826506G>C | CA9389657 | NPHS1 | c.*8C>G (n.*8C>G) c.3734C>G (n.3734C>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826506G= | CA2333840002 | NPHS1 | c.*8C= (n.*8C=) c.3734C= (n.3734C=) | |
19 | g.35826506G>T | CA881816936 | NPHS1 | c.*8C>A (n.*8C>A) c.3734C>A (n.3734C>A) | dbSNP |
19 | g.35826508G>C | CA2584601227 | NPHS1 | c.*6C>G (n.*6C>G) c.3732C>G (n.3732C>G) | gnomAD v4 |
19 | g.35826509G>A | CA2584601228 | NPHS1 | c.*5C>T (n.*5C>T) c.3731C>T (n.3731C>T) | gnomAD v4 |
19 | g.35826510G= | CA2333840003 | NPHS1 | c.*4C= (n.*4C=) c.3730C= (n.3730C=) | |
19 | g.35826510G>T | CA632775037 | NPHS1 | c.*4C>A (n.*4C>A) c.3730C>A (n.3730C>A) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35826511C>A | CA2584601229 | NPHS1 | c.*3G>T (n.*3G>T) c.3729G>T (n.3729G>T) | gnomAD v4 |
19 | g.35826513C= | CA2333840004 | NPHS1 | c.*1G= (n.*1G=) c.3727G= (n.3727G=) | |
19 | g.35826513C>G | CA2584601230 | NPHS1 | c.*1G>C (n.*1G>C) c.3727G>C (n.3727G>C) | gnomAD v4 |
19 | g.35826513C>T | CA9389658 | NPHS1 | c.*1G>A (n.*1G>A) c.3727G>A (n.3727G>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35826514T>A | CA405414958 | NPHS1 | c.3726A>T (p.Ter1242Tyr) c.3606A>T (p.Ter1202Tyr) | |
19 | g.35826514T>C | CA507091249 | NPHS1 | c.3726A>G (p.Ter1242=) c.3606A>G (p.Ter1202=) | |
19 | g.35826514T>G | CA405414955 | NPHS1 | c.3726A>C (p.Ter1242Tyr) c.3606A>C (p.Ter1202Tyr) | |
19 | g.35826515T>A | CA405414959 | NPHS1 | c.3725A>T (p.Ter1242Leu) c.3605A>T (p.Ter1202Leu) | |
19 | g.35826515T>C | CA507091252 | NPHS1 | c.3725A>G (p.Ter1242=) c.3605A>G (p.Ter1202=) | dbSNP |
19 | g.35826515T>G | CA405414962 | NPHS1 | c.3725A>C (p.Ter1242Ser) c.3605A>C (p.Ter1202Ser) | |
19 | g.35826516A= | CA2333840005 | NPHS1 | c.3724T= (p.Ter1242=) c.3604T= (p.Ter1202=) | |
19 | g.35826516A>C | CA405414965 | NPHS1 | c.3724T>G (p.Ter1242Glu) c.3604T>G (p.Ter1202Glu) | |
19 | g.35826516A>G | CA405414968 | NPHS1 | c.3724T>C (p.Ter1242Gln) c.3604T>C (p.Ter1202Gln) | |
19 | g.35826516A>T | CA405414970 | NPHS1 | c.3724T>A (p.Ter1242Lys) c.3604T>A (p.Ter1202Lys) | |
19 | g.35826517C>A | CA507091254 | NPHS1 | c.3723G>T (p.Val1241=) c.3603G>T (p.Val1201=) | gnomAD v4 |
19 | g.35826517C= | CA2333840006 | NPHS1 | c.3723G= (p.Val1241=) c.3603G= (p.Val1201=) | |
19 | g.35826517C>G | CA507091255 | NPHS1 | c.3723G>C (p.Val1241=) c.3603G>C (p.Val1201=) | |
19 | g.35826517C>T | CA9389660 | NPHS1 | c.3723G>A (p.Val1241=) c.3603G>A (p.Val1201=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35826519_35826521dup | CA9389659 | NPHS1 | c.3721_3723dup (p.Val1241_Ter1242insVal) c.3601_3603dup (p.Val1201_Ter1202insVal) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35826518A= | CA2333840007 | NPHS1 | c.3722T= (p.Val1241=) c.3602T= (p.Val1201=) | |
19 | g.35826518A>C | CA405414976 | NPHS1 | c.3722T>G (p.Val1241Gly) c.3602T>G (p.Val1201Gly) | |
19 | g.35826518A>G | CA9389661 | NPHS1 | c.3722T>C (p.Val1241Ala) c.3602T>C (p.Val1201Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826518A>T | CA405414978 | NPHS1 | c.3722T>A (p.Val1241Glu) c.3602T>A (p.Val1201Glu) | |
19 | g.35826519C>A | CA405414981 | NPHS1 | c.3721G>T (p.Val1241Leu) c.3601G>T (p.Val1201Leu) | |
19 | g.35826519C= | CA2333840008 | NPHS1 | c.3721G= (p.Val1241=) c.3601G= (p.Val1201=) | |
19 | g.35826519C>G | CA405414984 | NPHS1 | c.3721G>C (p.Val1241Leu) c.3601G>C (p.Val1201Leu) | |
19 | g.35826519C>T | CA9389662 | NPHS1 | c.3721G>A (p.Val1241Met) c.3601G>A (p.Val1201Met) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826520C>A | CA507091258 | NPHS1 | c.3720G>T (p.Leu1240=) c.3600G>T (p.Leu1200=) | |
19 | g.35826520C>G | CA507091259 | NPHS1 | c.3720G>C (p.Leu1240=) c.3600G>C (p.Leu1200=) | gnomAD v4 |
19 | g.35826520C>T | CA507091260 | NPHS1 | c.3720G>A (p.Leu1240=) c.3600G>A (p.Leu1200=) | ClinVar |
19 | g.35826521A>C | CA405414987 | NPHS1 | c.3719T>G (p.Leu1240Arg) c.3599T>G (p.Leu1200Arg) | |
19 | g.35826521A>G | CA405414991 | NPHS1 | c.3719T>C (p.Leu1240Pro) c.3599T>C (p.Leu1200Pro) | |
19 | g.35826521A>T | CA405414989 | NPHS1 | c.3719T>A (p.Leu1240Gln) c.3599T>A (p.Leu1200Gln) | |
19 | g.35826522G>A | CA507091261 | NPHS1 | c.3718C>T (p.Leu1240=) c.3598C>T (p.Leu1200=) | |
19 | g.35826522G>C | CA405414992 | NPHS1 | c.3718C>G (p.Leu1240Val) c.3598C>G (p.Leu1200Val) | |
19 | g.35826522G>T | CA405414993 | NPHS1 | c.3718C>A (p.Leu1240Met) c.3598C>A (p.Leu1200Met) | |
19 | g.35826523A= | CA2333840009 | NPHS1 | c.3717T= (p.His1239=) c.3597T= (p.His1199=) | |
19 | g.35826523A>C | CA405414995 | NPHS1 | c.3717T>G (p.His1239Gln) c.3597T>G (p.His1199Gln) | |
19 | g.35826523A>G | CA507091262 | NPHS1 | c.3717T>C (p.His1239=) c.3597T>C (p.His1199=) | gnomAD v4 |
19 | g.35826523A>T | CA9389663 | NPHS1 | c.3717T>A (p.His1239Gln) c.3597T>A (p.His1199Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35826524T>A | CA9389664 | NPHS1 | c.3716A>T (p.His1239Leu) c.3596A>T (p.His1199Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826524T>C | CA405414997 | NPHS1 | c.3716A>G (p.His1239Arg) c.3596A>G (p.His1199Arg) | dbSNP |
19 | g.35826524T>G | CA405414998 | NPHS1 | c.3716A>C (p.His1239Pro) c.3596A>C (p.His1199Pro) | |
19 | g.35826524T= | CA2333840010 | NPHS1 | c.3716A= (p.His1239=) c.3596A= (p.His1199=) | |
19 | g.35826525G>A | CA405414999 | NPHS1 | c.3715C>T (p.His1239Tyr) c.3595C>T (p.His1199Tyr) | |
19 | g.35826525G>C | CA405415000 | NPHS1 | c.3715C>G (p.His1239Asp) c.3595C>G (p.His1199Asp) | |
19 | g.35826525G>T | CA405415001 | NPHS1 | c.3715C>A (p.His1239Asn) c.3595C>A (p.His1199Asn) | gnomAD v4 |
19 | g.35826526T>A | CA507091265 | NPHS1 | c.3714A>T (p.Gly1238=) c.3594A>T (p.Gly1198=) | |
19 | g.35826526T>C | CA507091266 | NPHS1 | c.3714A>G (p.Gly1238=) c.3594A>G (p.Gly1198=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826526T>G | CA9389665 | NPHS1 | c.3714A>C (p.Gly1238=) c.3594A>C (p.Gly1198=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826526T= | CA2333840011 | NPHS1 | c.3714A= (p.Gly1238=) c.3594A= (p.Gly1198=) | |
19 | g.35826527C>A | CA405415002 | NPHS1 | c.3713G>T (p.Gly1238Val) c.3593G>T (p.Gly1198Val) | |
19 | g.35826527C= | CA2333840012 | NPHS1 | c.3713G= (p.Gly1238=) c.3593G= (p.Gly1198=) | |
19 | g.35826527C>G | CA405415003 | NPHS1 | c.3713G>C (p.Gly1238Ala) c.3593G>C (p.Gly1198Ala) | |
19 | g.35826527C>T | CA9389666 | NPHS1 | c.3713G>A (p.Gly1238Glu) c.3593G>A (p.Gly1198Glu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35826528C>A | CA405415005 | NPHS1 | c.3712G>T (p.Gly1238Ter) c.3592G>T (p.Gly1198Ter) | ClinVar dbSNP COSMIC |
19 | g.35826528C= | CA2333840013 | NPHS1 | c.3712G= (p.Gly1238=) c.3592G= (p.Gly1198=) | |
19 | g.35826528C>G | CA405415004 | NPHS1 | c.3712G>C (p.Gly1238Arg) c.3592G>C (p.Gly1198Arg) | |
19 | g.35826528C>T | CA405415006 | NPHS1 | c.3712G>A (p.Gly1238Arg) c.3592G>A (p.Gly1198Arg) | dbSNP gnomAD v3 gnomAD v4 |
19 | g.35826529C>A | CA405415007 | NPHS1 | c.3711G>T (p.Arg1237Ser) c.3591G>T (p.Arg1197Ser) | |
19 | g.35826529C>G | CA405415008 | NPHS1 | c.3711G>C (p.Arg1237Ser) c.3591G>C (p.Arg1197Ser) | |
19 | g.35826529C>T | CA507091269 | NPHS1 | c.3711G>A (p.Arg1237=) c.3591G>A (p.Arg1197=) | |
19 | g.35826530C>A | CA405415009 | NPHS1 | c.3710G>T (p.Arg1237Met) c.3590G>T (p.Arg1197Met) | |
19 | g.35826530C>G | CA405415010 | NPHS1 | c.3710G>C (p.Arg1237Thr) c.3590G>C (p.Arg1197Thr) | |
19 | g.35826530C>T | CA405415011 | NPHS1 | c.3710G>A (p.Arg1237Lys) c.3590G>A (p.Arg1197Lys) | |
19 | g.35826531T>A | CA405415012 | NPHS1 | c.3709A>T (p.Arg1237Trp) c.3589A>T (p.Arg1197Trp) | |
19 | g.35826531T>C | CA405415013 | NPHS1 | c.3709A>G (p.Arg1237Gly) c.3589A>G (p.Arg1197Gly) | |
19 | g.35826531T>G | CA507091271 | NPHS1 | c.3709A>C (p.Arg1237=) c.3589A>C (p.Arg1197=) | |
19 | g.35826532C>A | CA507091272 | NPHS1 | c.3708G>T (p.Leu1236=) c.3588G>T (p.Leu1196=) | |
19 | g.35826532C= | CA2333840014 | NPHS1 | c.3708G= (p.Leu1236=) c.3588G= (p.Leu1196=) | |
19 | g.35826532C>G | CA507091273 | NPHS1 | c.3708G>C (p.Leu1236=) c.3588G>C (p.Leu1196=) | |
19 | g.35826532C>T | CA507091274 | NPHS1 | c.3708G>A (p.Leu1236=) c.3588G>A (p.Leu1196=) | ClinVar dbSNP gnomAD v4 |
19 | g.35826533A>C | CA405415014 | NPHS1 | c.3707T>G (p.Leu1236Arg) c.3587T>G (p.Leu1196Arg) | |
19 | g.35826533A>G | CA405415016 | NPHS1 | c.3707T>C (p.Leu1236Pro) c.3587T>C (p.Leu1196Pro) | |
19 | g.35826533A>T | CA405415015 | NPHS1 | c.3707T>A (p.Leu1236Gln) c.3587T>A (p.Leu1196Gln) | |
19 | g.35826534G>A | CA507091275 | NPHS1 | c.3706C>T (p.Leu1236=) c.3586C>T (p.Leu1196=) | |
19 | g.35826534G>C | CA405415017 | NPHS1 | c.3706C>G (p.Leu1236Val) c.3586C>G (p.Leu1196Val) | |
19 | g.35826534G>T | CA405415018 | NPHS1 | c.3706C>A (p.Leu1236Met) c.3586C>A (p.Leu1196Met) | |
19 | g.35826535C>A | CA405415019 | NPHS1 | c.3705G>T (p.Glu1235Asp) c.3585G>T (p.Glu1195Asp) | |
19 | g.35826535C>G | CA405415020 | NPHS1 | c.3705G>C (p.Glu1235Asp) c.3585G>C (p.Glu1195Asp) | |
19 | g.35826535C>T | CA507091277 | NPHS1 | c.3705G>A (p.Glu1235=) c.3585G>A (p.Glu1195=) | |
19 | g.35826536T>A | CA405415023 | NPHS1 | c.3704A>T (p.Glu1235Val) c.3584A>T (p.Glu1195Val) | |
19 | g.35826536T>C | CA405415021 | NPHS1 | c.3704A>G (p.Glu1235Gly) c.3584A>G (p.Glu1195Gly) | |
19 | g.35826536T>G | CA405415022 | NPHS1 | c.3704A>C (p.Glu1235Ala) c.3584A>C (p.Glu1195Ala) | |
19 | g.35826537C>A | CA405415024 | NPHS1 | c.3703G>T (p.Glu1235Ter) c.3583G>T (p.Glu1195Ter) | |
19 | g.35826537C= | CA2333840015 | NPHS1 | c.3703G= (p.Glu1235=) c.3583G= (p.Glu1195=) | |
19 | g.35826537C>G | CA405415025 | NPHS1 | c.3703G>C (p.Glu1235Gln) c.3583G>C (p.Glu1195Gln) | |
19 | g.35826537C>T | CA9389667 | NPHS1 | c.3703G>A (p.Glu1235Lys) c.3583G>A (p.Glu1195Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35826538G>A | CA9389668 | NPHS1 | c.3702C>T (p.Phe1234=) c.3582C>T (p.Phe1194=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35826538G>C | CA405415026 | NPHS1 | c.3702C>G (p.Phe1234Leu) c.3582C>G (p.Phe1194Leu) | |
19 | g.35826538G= | CA2333840016 | NPHS1 | c.3702C= (p.Phe1234=) c.3582C= (p.Phe1194=) | |
19 | g.35826538G>T | CA405415027 | NPHS1 | c.3702C>A (p.Phe1234Leu) c.3582C>A (p.Phe1194Leu) | gnomAD v4 |
19 | g.35826539A>C | CA405415028 | NPHS1 | c.3701T>G (p.Phe1234Cys) c.3581T>G (p.Phe1194Cys) | gnomAD v4 |
19 | g.35826539A>G | CA405415029 | NPHS1 | c.3701T>C (p.Phe1234Ser) c.3581T>C (p.Phe1194Ser) | |
19 | g.35826539A>T | CA405415030 | NPHS1 | c.3701T>A (p.Phe1234Tyr) c.3581T>A (p.Phe1194Tyr) | |
19 | g.35826540del | CA2582342952 | NPHS1 | c.3701del (p.Phe1234SerfsTer3) c.3581del (p.Phe1194SerfsTer3) | ClinVar |
19 | g.35826540A>C | CA405415031 | NPHS1 | c.3700T>G (p.Phe1234Val) c.3580T>G (p.Phe1194Val) | |
19 | g.35826540A>G | CA405415032 | NPHS1 | c.3700T>C (p.Phe1234Leu) c.3580T>C (p.Phe1194Leu) | |
19 | g.35826540A>T | CA405415033 | NPHS1 | c.3700T>A (p.Phe1234Ile) c.3580T>A (p.Phe1194Ile) | |
19 | g.35826542_35826546del | CA2831039044 | NPHS1 | c.3696_3700del (p.Pro1233ArgfsTer?) c.3576_3580del (p.Pro1193ArgfsTer?) | |
19 | g.35826541G>A | CA507091283 | NPHS1 | c.3699C>T (p.Pro1233=) c.3579C>T (p.Pro1193=) | ClinVar dbSNP gnomAD v4 |
19 | g.35826541G>C | CA507091282 | NPHS1 | c.3699C>G (p.Pro1233=) c.3579C>G (p.Pro1193=) | |
19 | g.35826541G= | CA2333840017 | NPHS1 | c.3699C= (p.Pro1233=) c.3579C= (p.Pro1193=) | |
19 | g.35826541G>T | CA507091281 | NPHS1 | c.3699C>A (p.Pro1233=) c.3579C>A (p.Pro1193=) | |
19 | g.35826543del | CA2584601231 | NPHS1 | c.3699del (p.Phe1234SerfsTer3) c.3579del (p.Phe1194SerfsTer3) | ClinVar gnomAD v4 |
19 | g.35826542G>A | CA405415034 | NPHS1 | c.3698C>T (p.Pro1233Leu) c.3578C>T (p.Pro1193Leu) | gnomAD v4 COSMIC |
19 | g.35826542G>C | CA405415036 | NPHS1 | c.3698C>G (p.Pro1233Arg) c.3578C>G (p.Pro1193Arg) | |
19 | g.35826542G>T | CA405415035 | NPHS1 | c.3698C>A (p.Pro1233His) c.3578C>A (p.Pro1193His) | |
19 | g.35826543G>A | CA405415037 | NPHS1 | c.3697C>T (p.Pro1233Ser) c.3577C>T (p.Pro1193Ser) | |
19 | g.35826543G>C | CA405415038 | NPHS1 | c.3697C>G (p.Pro1233Ala) c.3577C>G (p.Pro1193Ala) | |
19 | g.35826543G>T | CA405415039 | NPHS1 | c.3697C>A (p.Pro1233Thr) c.3577C>A (p.Pro1193Thr) | gnomAD v4 |
19 | g.35826544C>A | CA507091284 | NPHS1 | c.3696G>T (p.Leu1232=) c.3576G>T (p.Leu1192=) | |
19 | g.35826544C>G | CA507091286 | NPHS1 | c.3696G>C (p.Leu1232=) c.3576G>C (p.Leu1192=) | |
19 | g.35826544C>T | CA507091285 | NPHS1 | c.3696G>A (p.Leu1232=) c.3576G>A (p.Leu1192=) | gnomAD v4 |
19 | g.35826545A>C | CA405415040 | NPHS1 | c.3695T>G (p.Leu1232Arg) c.3575T>G (p.Leu1192Arg) | |
19 | g.35826545A>G | CA405415041 | NPHS1 | c.3695T>C (p.Leu1232Pro) c.3575T>C (p.Leu1192Pro) | |
19 | g.35826545A>T | CA405415042 | NPHS1 | c.3695T>A (p.Leu1232Gln) c.3575T>A (p.Leu1192Gln) | |
19 | g.35826546G>A | CA507091289 | NPHS1 | c.3694C>T (p.Leu1232=) c.3574C>T (p.Leu1192=) | |
19 | g.35826546G>C | CA405415043 | NPHS1 | c.3694C>G (p.Leu1232Val) c.3574C>G (p.Leu1192Val) | |
19 | g.35826546G>T | CA405415044 | NPHS1 | c.3694C>A (p.Leu1232Met) c.3574C>A (p.Leu1192Met) | COSMIC |
19 | g.35826547A>C | CA507091290 | NPHS1 | c.3693T>G (p.Ser1231=) c.3573T>G (p.Ser1191=) | |
19 | g.35826547A>G | CA507091291 | NPHS1 | c.3693T>C (p.Ser1231=) c.3573T>C (p.Ser1191=) | ClinVar dbSNP gnomAD v4 |
19 | g.35826547A>T | CA507091292 | NPHS1 | c.3693T>A (p.Ser1231=) c.3573T>A (p.Ser1191=) | |
19 | g.35826548G>A | CA405415045 | NPHS1 | c.3692C>T (p.Ser1231Phe) c.3572C>T (p.Ser1191Phe) | COSMIC |
19 | g.35826548G>C | CA405415046 | NPHS1 | c.3692C>G (p.Ser1231Cys) c.3572C>G (p.Ser1191Cys) | |
19 | g.35826548G>T | CA405415047 | NPHS1 | c.3692C>A (p.Ser1231Tyr) c.3572C>A (p.Ser1191Tyr) | |
19 | g.35826549A>C | CA405415050 | NPHS1 | c.3691T>G (p.Ser1231Ala) c.3571T>G (p.Ser1191Ala) | |
19 | g.35826549A>G | CA405415049 | NPHS1 | c.3691T>C (p.Ser1231Pro) c.3571T>C (p.Ser1191Pro) | gnomAD v4 |
19 | g.35826549A>T | CA405415048 | NPHS1 | c.3691T>A (p.Ser1231Thr) c.3571T>A (p.Ser1191Thr) | |
19 | g.35826550A>C | CA405415051 | NPHS1 | c.3690T>G (p.Asp1230Glu) c.3570T>G (p.Asp1190Glu) | |
19 | g.35826550A>G | CA507091293 | NPHS1 | c.3690T>C (p.Asp1230=) c.3570T>C (p.Asp1190=) | |
19 | g.35826550A>T | CA405415052 | NPHS1 | c.3690T>A (p.Asp1230Glu) c.3570T>A (p.Asp1190Glu) |