19 | g.35842182_35842183dup | CA250202 | NPHS1 | c.2606_2607dup (p.Asn870ProfsTer?)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35842182G>A | CA405391570 | NPHS1 | c.2605C>T (p.Pro869Ser)
| |
19 | g.35842182G>C | CA405391573 | NPHS1 | c.2605C>G (p.Pro869Ala)
| |
19 | g.35842182G>T | CA405391576 | NPHS1 | c.2605C>A (p.Pro869Thr)
| gnomAD v4 COSMIC |
19 | g.35842183G>A | CA9390082 | NPHS1 | c.2604C>T (p.Val868=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35842183G>C | CA507075904 | NPHS1 | c.2604C>G (p.Val868=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35842183G= | CA2333847394 | NPHS1 | c.2604C= (p.Val868=)
| |
19 | g.35842183G>T | CA507075903 | NPHS1 | c.2604C>A (p.Val868=)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35842184A>C | CA405391586 | NPHS1 | c.2603T>G (p.Val868Gly)
| |
19 | g.35842184A>G | CA405391588 | NPHS1 | c.2603T>C (p.Val868Ala)
| gnomAD v4 |
19 | g.35842184A>T | CA405391591 | NPHS1 | c.2603T>A (p.Val868Asp)
| gnomAD v4 |
19 | g.35842185C>A | CA405391597 | NPHS1 | c.2602G>T (p.Val868Phe)
| |
19 | g.35842185C>G | CA405391599 | NPHS1 | c.2602G>C (p.Val868Leu)
| |
19 | g.35842185C>T | CA405391602 | NPHS1 | c.2602G>A (p.Val868Ile)
| gnomAD v4 |
19 | g.35842186A>C | CA507075912 | NPHS1 | c.2601T>G (p.Gly867=)
| ClinVar dbSNP |
19 | g.35842186A>G | CA507075913 | NPHS1 | c.2601T>C (p.Gly867=)
| |
19 | g.35842186A>T | CA507075914 | NPHS1 | c.2601T>A (p.Gly867=)
| |
19 | g.35842187C>A | CA405391605 | NPHS1 | c.2600G>T (p.Gly867Val)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35842187C= | CA2333847395 | NPHS1 | c.2600G= (p.Gly867=)
| |
19 | g.35842187C>G | CA405391606 | NPHS1 | c.2600G>C (p.Gly867Ala)
| |
19 | g.35842187C>T | CA9390083 | NPHS1 | c.2600G>A (p.Gly867Asp)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35842188C>A | CA405391609 | NPHS1 | c.2599G>T (p.Gly867Cys)
| |
19 | g.35842188C>G | CA405391613 | NPHS1 | c.2599G>C (p.Gly867Arg)
| |
19 | g.35842188C>T | CA405391615 | NPHS1 | c.2599G>A (p.Gly867Ser)
| |
19 | g.35842189T>A | CA507075918 | NPHS1 | c.2598A>T (p.Arg866=)
| |
19 | g.35842189T>C | CA507075919 | NPHS1 | c.2598A>G (p.Arg866=)
| |
19 | g.35842189T>G | CA507075920 | NPHS1 | c.2598A>C (p.Arg866=)
| gnomAD v4 |
19 | g.35842190C>A | CA405391619 | NPHS1 | c.2597G>T (p.Arg866Leu)
| |
19 | g.35842190C= | CA2333847396 | NPHS1 | c.2597G= (p.Arg866=)
| |
19 | g.35842190C>G | CA405391622 | NPHS1 | c.2597G>C (p.Arg866Pro)
| |
19 | g.35842190C>T | CA307782190 | NPHS1 | c.2597G>A (p.Arg866Gln)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35842191G>A | CA250199 | NPHS1 | c.2596C>T (p.Arg866Ter)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.35842191G>C | CA405391627 | NPHS1 | c.2596C>G (p.Arg866Gly)
| |
19 | g.35842191G= | CA2333847397 | NPHS1 | c.2596C= (p.Arg866=)
| |
19 | g.35842191G>T | CA507075921 | NPHS1 | c.2596C>A (p.Arg866=)
| |
19 | g.35842192G>A | CA507075922 | NPHS1 | c.2595C>T (p.Ala865=)
| |
19 | g.35842192G>C | CA507075923 | NPHS1 | c.2595C>G (p.Ala865=)
| |
19 | g.35842192G>T | CA507075924 | NPHS1 | c.2595C>A (p.Ala865=)
| |
19 | g.35842193G>A | CA405391632 | NPHS1 | c.2594C>T (p.Ala865Val)
| |
19 | g.35842193G>C | CA405391635 | NPHS1 | c.2594C>G (p.Ala865Gly)
| |
19 | g.35842193G>T | CA405391637 | NPHS1 | c.2594C>A (p.Ala865Asp)
| |
19 | g.35842194C>A | CA405391643 | NPHS1 | c.2593G>T (p.Ala865Ser)
| |
19 | g.35842194C>G | CA405391647 | NPHS1 | c.2593G>C (p.Ala865Pro)
| |
19 | g.35842194C>T | CA405391649 | NPHS1 | c.2593G>A (p.Ala865Thr)
| |
19 | g.35842195A>C | CA507075928 | NPHS1 | c.2592T>G (p.Arg864=)
| |
19 | g.35842195A>G | CA507075929 | NPHS1 | c.2592T>C (p.Arg864=)
| gnomAD v4 |
19 | g.35842195A>T | CA507075930 | NPHS1 | c.2592T>A (p.Arg864=)
| |
19 | g.35842196C>A | CA405391654 | NPHS1 | c.2591G>T (p.Arg864Leu)
| |
19 | g.35842196C= | CA2333847398 | NPHS1 | c.2591G= (p.Arg864=)
| |
19 | g.35842196C>G | CA405391659 | NPHS1 | c.2591G>C (p.Arg864Pro)
| |
19 | g.35842196C>T | CA9390084 | NPHS1 | c.2591G>A (p.Arg864His)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35842197G>A | CA9390085 | NPHS1 | c.2590C>T (p.Arg864Cys)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35842197G>C | CA405391666 | NPHS1 | c.2590C>G (p.Arg864Gly)
| |
19 | g.35842197G= | CA2333847399 | NPHS1 | c.2590C= (p.Arg864=)
| |
19 | g.35842197G>T | CA405391667 | NPHS1 | c.2590C>A (p.Arg864Ser)
| |
19 | g.35842198G>A | CA507075932 | NPHS1 | c.2589C>T (p.Cys863=)
| ClinVar gnomAD v4 |
19 | g.35842198G>C | CA405391671 | NPHS1 | c.2589C>G (p.Cys863Trp)
| |
19 | g.35842198G>T | CA405391674 | NPHS1 | c.2589C>A (p.Cys863Ter)
| |
19 | g.35842199C>A | CA405391683 | NPHS1 | c.2588G>T (p.Cys863Phe)
| ClinVar dbSNP |
19 | g.35842199C= | CA2333847400 | NPHS1 | c.2588G= (p.Cys863=)
| |
19 | g.35842199C>G | CA405391685 | NPHS1 | c.2588G>C (p.Cys863Ser)
| |
19 | g.35842199C>T | CA405391687 | NPHS1 | c.2588G>A (p.Cys863Tyr)
| |
19 | g.35842200A>C | CA405391691 | NPHS1 | c.2587T>G (p.Cys863Gly)
| |
19 | g.35842200A>G | CA405391694 | NPHS1 | c.2587T>C (p.Cys863Arg)
| ClinVar |
19 | g.35842200A>T | CA405391697 | NPHS1 | c.2587T>A (p.Cys863Ser)
| |
19 | g.35842201G>A | CA507075941 | NPHS1 | c.2586C>T (p.His862=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35842201G>C | CA405391700 | NPHS1 | c.2586C>G (p.His862Gln)
| |
19 | g.35842201G= | CA2333847401 | NPHS1 | c.2586C= (p.His862=)
| |
19 | g.35842201G>T | CA405391702 | NPHS1 | c.2586C>A (p.His862Gln)
| |
19 | g.35842202T>A | CA405391707 | NPHS1 | c.2585A>T (p.His862Leu)
| |
19 | g.35842202T>C | CA405391712 | NPHS1 | c.2585A>G (p.His862Arg)
| |
19 | g.35842202T>G | CA405391710 | NPHS1 | c.2585A>C (p.His862Pro)
| |
19 | g.35842203G>A | CA405391717 | NPHS1 | c.2584C>T (p.His862Tyr)
| dbSNP gnomAD v4 |
19 | g.35842203G>C | CA405391722 | NPHS1 | c.2584C>G (p.His862Asp)
| |
19 | g.35842203G= | CA2333847402 | NPHS1 | c.2584C= (p.His862=)
| |
19 | g.35842203G>T | CA405391719 | NPHS1 | c.2584C>A (p.His862Asn)
| |
19 | g.35842204G>A | CA507075953 | NPHS1 | c.2583C>T (p.Leu861=)
| dbSNP gnomAD v4 |
19 | g.35842204G>C | CA507075951 | NPHS1 | c.2583C>G (p.Leu861=)
| |
19 | g.35842204G= | CA2333847403 | NPHS1 | c.2583C= (p.Leu861=)
| |
19 | g.35842204G>T | CA507075950 | NPHS1 | c.2583C>A (p.Leu861=)
| |
19 | g.35842205A>C | CA405391728 | NPHS1 | c.2582T>G (p.Leu861Arg)
| |
19 | g.35842205A>G | CA405391731 | NPHS1 | c.2582T>C (p.Leu861Pro)
| |
19 | g.35842205A>T | CA405391734 | NPHS1 | c.2582T>A (p.Leu861His)
| |
19 | g.35842206G>A | CA405391738 | NPHS1 | c.2581C>T (p.Leu861Phe)
| |
19 | g.35842206G>C | CA405391740 | NPHS1 | c.2581C>G (p.Leu861Val)
| |
19 | g.35842206G>T | CA405391742 | NPHS1 | c.2581C>A (p.Leu861Ile)
| gnomAD v4 |
19 | g.35842207G>A | CA9390086 | NPHS1 | c.2580C>T (p.Thr860=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
19 | g.35842207G>C | CA507075960 | NPHS1 | c.2580C>G (p.Thr860=)
| |
19 | g.35842207G= | CA2333847404 | NPHS1 | c.2580C= (p.Thr860=)
| |
19 | g.35842207G>T | CA507075962 | NPHS1 | c.2580C>A (p.Thr860=)
| |
19 | g.35842208G>A | CA405391748 | NPHS1 | c.2579C>T (p.Thr860Ile)
| |
19 | g.35842208G>C | CA405391751 | NPHS1 | c.2579C>G (p.Thr860Ser)
| |
19 | g.35842208G>T | CA405391753 | NPHS1 | c.2579C>A (p.Thr860Asn)
| |
19 | g.35842209T>A | CA405391764 | NPHS1 | c.2578A>T (p.Thr860Ser)
| |
19 | g.35842209T>C | CA405391761 | NPHS1 | c.2578A>G (p.Thr860Ala)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35842209T>G | CA405391758 | NPHS1 | c.2578A>C (p.Thr860Pro)
| dbSNP |
19 | g.35842209T= | CA2333847405 | NPHS1 | c.2578A= (p.Thr860=)
| |
19 | g.35842209dup | CA2576758769 | NPHS1 | c.2578dup (p.Thr860AsnfsTer?)
| |
19 | g.35842210G>A | CA507075970 | NPHS1 | c.2577C>T (p.Ala859=)
| |
19 | g.35842210G>C | CA507075974 | NPHS1 | c.2577C>G (p.Ala859=)
| |
19 | g.35842210G>T | CA507075972 | NPHS1 | c.2577C>A (p.Ala859=)
| COSMIC |
19 | g.35842211G>A | CA405391769 | NPHS1 | c.2576C>T (p.Ala859Val)
| |
19 | g.35842211G>C | CA405391772 | NPHS1 | c.2576C>G (p.Ala859Gly)
| |
19 | g.35842211G>T | CA405391775 | NPHS1 | c.2576C>A (p.Ala859Asp)
| |
19 | g.35842212C>A | CA405391780 | NPHS1 | c.2575G>T (p.Ala859Ser)
| gnomAD v4 |
19 | g.35842212C>G | CA405391782 | NPHS1 | c.2575G>C (p.Ala859Pro)
| dbSNP gnomAD v3 gnomAD v4 |
19 | g.35842212C>T | CA405391786 | NPHS1 | c.2575G>A (p.Ala859Thr)
| |
19 | g.35842213A>C | CA507075982 | NPHS1 | c.2574T>G (p.Ser858=)
| |
19 | g.35842213A>G | CA507075983 | NPHS1 | c.2574T>C (p.Ser858=)
| |
19 | g.35842213A>T | CA507075985 | NPHS1 | c.2574T>A (p.Ser858=)
| |
19 | g.35842214G>A | CA405391790 | NPHS1 | c.2573C>T (p.Ser858Phe)
| |
19 | g.35842214G>C | CA405391792 | NPHS1 | c.2573C>G (p.Ser858Cys)
| |
19 | g.35842214G>T | CA405391795 | NPHS1 | c.2573C>A (p.Ser858Tyr)
| |
19 | g.35842215A>C | CA405391800 | NPHS1 | c.2572T>G (p.Ser858Ala)
| |
19 | g.35842215A>G | CA405391803 | NPHS1 | c.2572T>C (p.Ser858Pro)
| |
19 | g.35842215A>T | CA405391806 | NPHS1 | c.2572T>A (p.Ser858Thr)
| |
19 | g.35842216A>C | CA405391813 | NPHS1 | c.2571T>G (p.Ser857Arg)
| |
19 | g.35842216A>G | CA507075993 | NPHS1 | c.2571T>C (p.Ser857=)
| |
19 | g.35842216A>T | CA405391810 | NPHS1 | c.2571T>A (p.Ser857Arg)
| |
19 | g.35842217C>A | CA405391818 | NPHS1 | c.2570G>T (p.Ser857Ile)
| |
19 | g.35842217C>G | CA405391821 | NPHS1 | c.2570G>C (p.Ser857Thr)
| |
19 | g.35842217C>T | CA405391824 | NPHS1 | c.2570G>A (p.Ser857Asn)
| |
19 | g.35842218T>A | CA405391830 | NPHS1 | c.2569A>T (p.Ser857Cys)
| |
19 | g.35842218T>C | CA405391833 | NPHS1 | c.2569A>G (p.Ser857Gly)
| |
19 | g.35842218T>G | CA405391835 | NPHS1 | c.2569A>C (p.Ser857Arg)
| |
19 | g.35842219G>A | CA507076006 | NPHS1 | c.2568C>T (p.Thr856=)
| |
19 | g.35842219G>C | CA507076008 | NPHS1 | c.2568C>G (p.Thr856=)
| |
19 | g.35842219G>T | CA507076004 | NPHS1 | c.2568C>A (p.Thr856=)
| |
19 | g.35842220G>A | CA405391845 | NPHS1 | c.2567C>T (p.Thr856Ile)
| gnomAD v4 |
19 | g.35842220G>C | CA405391841 | NPHS1 | c.2567C>G (p.Thr856Ser)
| |
19 | g.35842220G= | CA2333847406 | NPHS1 | c.2567C= (p.Thr856=)
| |
19 | g.35842220G>T | CA9390087 | NPHS1 | c.2567C>A (p.Thr856Asn)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35842221T>A | CA405391850 | NPHS1 | c.2566A>T (p.Thr856Ser)
| |
19 | g.35842221T>C | CA405391854 | NPHS1 | c.2566A>G (p.Thr856Ala)
| |
19 | g.35842221T>G | CA405391857 | NPHS1 | c.2566A>C (p.Thr856Pro)
| dbSNP |
19 | g.35842221T= | CA2333847407 | NPHS1 | c.2566A= (p.Thr856=)
| |
19 | g.35842222G>A | CA507076018 | NPHS1 | c.2565C>T (p.Ser855=)
| ClinVar |
19 | g.35842222G>C | CA405391864 | NPHS1 | c.2565C>G (p.Ser855Arg)
| |
19 | g.35842222G>T | CA405391866 | NPHS1 | c.2565C>A (p.Ser855Arg)
| |
19 | g.35842223C>A | CA405391870 | NPHS1 | c.2564G>T (p.Ser855Ile)
| gnomAD v4 |
19 | g.35842223C>G | CA405391875 | NPHS1 | c.2564G>C (p.Ser855Thr)
| COSMIC |
19 | g.35842223C>T | CA405391871 | NPHS1 | c.2564G>A (p.Ser855Asn)
| COSMIC |
19 | g.35842224T>A | CA405391880 | NPHS1 | c.2563A>T (p.Ser855Cys)
| |
19 | g.35842224T>C | CA405391883 | NPHS1 | c.2563A>G (p.Ser855Gly)
| |
19 | g.35842224T>G | CA405391885 | NPHS1 | c.2563A>C (p.Ser855Arg)
| |
19 | g.35842225G>A | CA507076030 | NPHS1 | c.2562C>T (p.Asp854=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35842225G>C | CA405391888 | NPHS1 | c.2562C>G (p.Asp854Glu)
| |
19 | g.35842225G= | CA2333847408 | NPHS1 | c.2562C= (p.Asp854=)
| |
19 | g.35842225G>T | CA405391890 | NPHS1 | c.2562C>A (p.Asp854Glu)
| gnomAD v4 |
19 | g.35842226T>A | CA405391895 | NPHS1 | c.2561A>T (p.Asp854Val)
| dbSNP gnomAD v4 |
19 | g.35842226T>C | CA405391898 | NPHS1 | c.2561A>G (p.Asp854Gly)
| gnomAD v4 |
19 | g.35842226T>G | CA405391903 | NPHS1 | c.2561A>C (p.Asp854Ala)
| |
19 | g.35842227C>A | CA405391907 | NPHS1 | c.2560G>T (p.Asp854Tyr)
| COSMIC |
19 | g.35842227C>G | CA405391909 | NPHS1 | c.2560G>C (p.Asp854His)
| |
19 | g.35842227C>T | CA405391912 | NPHS1 | c.2560G>A (p.Asp854Asn)
| gnomAD v4 |
19 | g.35842228T>A | CA507076039 | NPHS1 | c.2559A>T (p.Gly853=)
| |
19 | g.35842228T>C | CA507076041 | NPHS1 | c.2559A>G (p.Gly853=)
| |
19 | g.35842228T>G | CA507076043 | NPHS1 | c.2559A>C (p.Gly853=)
| |
19 | g.35842228_35842238delinsTCCAGCTGCAG | CA2333847409 | NPHS1 | c.2549_2559delinsCTGCAGCTGGA (p.Ala850=)
| |
19 | g.35842229C>A | CA405391926 | NPHS1 | c.2558G>T (p.Gly853Val)
| |
19 | g.35842229C>G | CA405391919 | NPHS1 | c.2558G>C (p.Gly853Ala)
| |
19 | g.35842229C>T | CA405391922 | NPHS1 | c.2558G>A (p.Gly853Glu)
| |
19 | g.35842232_35842241del | CA250198 | NPHS1 | c.2549_2558del (p.Ala850GlufsTer?)
| ClinVar dbSNP |
19 | g.35842230C>A | CA405391935 | NPHS1 | c.2557G>T (p.Gly853Ter)
| |
19 | g.35842230C>G | CA405391939 | NPHS1 | c.2557G>C (p.Gly853Arg)
| |
19 | g.35842230C>T | CA405391942 | NPHS1 | c.2557G>A (p.Gly853Arg)
| |
19 | g.35842231A= | CA2333847410 | NPHS1 | c.2556T= (p.Ala852=)
| |
19 | g.35842231A>C | CA9390088 | NPHS1 | c.2556T>G (p.Ala852=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35842231A>G | CA507076051 | NPHS1 | c.2556T>C (p.Ala852=)
| |
19 | g.35842231A>T | CA507076056 | NPHS1 | c.2556T>A (p.Ala852=)
| |
19 | g.35842232G>A | CA405391949 | NPHS1 | c.2555C>T (p.Ala852Val)
| |
19 | g.35842232G>C | CA405391952 | NPHS1 | c.2555C>G (p.Ala852Gly)
| |
19 | g.35842232G>T | CA405391955 | NPHS1 | c.2555C>A (p.Ala852Asp)
| |
19 | g.35842233C>A | CA405391961 | NPHS1 | c.2554G>T (p.Ala852Ser)
| |
19 | g.35842233C>G | CA405391964 | NPHS1 | c.2554G>C (p.Ala852Pro)
| |
19 | g.35842233C>T | CA405391967 | NPHS1 | c.2554G>A (p.Ala852Thr)
| |
19 | g.35842234T>A | CA507076066 | NPHS1 | c.2553A>T (p.Ala851=)
| gnomAD v4 |
19 | g.35842234T>C | CA507076069 | NPHS1 | c.2553A>G (p.Ala851=)
| |
19 | g.35842234T>G | CA507076070 | NPHS1 | c.2553A>C (p.Ala851=)
| |
19 | g.35842235G>A | CA405391970 | NPHS1 | c.2552C>T (p.Ala851Val)
| gnomAD v4 |
19 | g.35842235G>C | CA405391974 | NPHS1 | c.2552C>G (p.Ala851Gly)
| |
19 | g.35842235G>T | CA405391976 | NPHS1 | c.2552C>A (p.Ala851Glu)
| |
19 | g.35842236C>A | CA405391981 | NPHS1 | c.2551G>T (p.Ala851Ser)
| |
19 | g.35842236C= | CA2333847411 | NPHS1 | c.2551G= (p.Ala851=)
| |
19 | g.35842236C>G | CA405391980 | NPHS1 | c.2551G>C (p.Ala851Pro)
| |
19 | g.35842236C>T | CA405391979 | NPHS1 | c.2551G>A (p.Ala851Thr)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35842237A>C | CA507076079 | NPHS1 | c.2550T>G (p.Ala850=)
| |
19 | g.35842237A>G | CA507076080 | NPHS1 | c.2550T>C (p.Ala850=)
| |
19 | g.35842237A>T | CA507076081 | NPHS1 | c.2550T>A (p.Ala850=)
| |
19 | g.35842238G>A | CA405391982 | NPHS1 | c.2549C>T (p.Ala850Val)
| |
19 | g.35842238G>C | CA405391984 | NPHS1 | c.2549C>G (p.Ala850Gly)
| |
19 | g.35842238G>T | CA405391987 | NPHS1 | c.2549C>A (p.Ala850Asp)
| COSMIC |
19 | g.35842239C>A | CA405391991 | NPHS1 | c.2548G>T (p.Ala850Ser)
| |
19 | g.35842239C>G | CA405391993 | NPHS1 | c.2548G>C (p.Ala850Pro)
| |
19 | g.35842239C>T | CA405391997 | NPHS1 | c.2548G>A (p.Ala850Thr)
| |
19 | g.35842240C>A | CA507076091 | NPHS1 | c.2547G>T (p.Val849=)
| |
19 | g.35842240C>G | CA507076092 | NPHS1 | c.2547G>C (p.Val849=)
| COSMIC |
19 | g.35842240C>T | CA507076094 | NPHS1 | c.2547G>A (p.Val849=)
| |
19 | g.35842241A>C | CA405392001 | NPHS1 | c.2546T>G (p.Val849Gly)
| |
19 | g.35842241A>G | CA405392003 | NPHS1 | c.2546T>C (p.Val849Ala)
| |
19 | g.35842241A>T | CA405392007 | NPHS1 | c.2546T>A (p.Val849Glu)
| |
19 | g.35842242C>A | CA405392011 | NPHS1 | c.2545G>T (p.Val849Leu)
| |
19 | g.35842242C= | CA2333847412 | NPHS1 | c.2545G= (p.Val849=)
| |
19 | g.35842242C>G | CA405392014 | NPHS1 | c.2545G>C (p.Val849Leu)
| |
19 | g.35842242C>T | CA405392016 | NPHS1 | c.2545G>A (p.Val849Met)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35842243C>A | CA405392025 | NPHS1 | c.2544G>T (p.Lys848Asn)
| |
19 | g.35842243C= | CA2333847413 | NPHS1 | c.2544G= (p.Lys848=)
| |
19 | g.35842243C>G | CA405392021 | NPHS1 | c.2544G>C (p.Lys848Asn)
| |
19 | g.35842243C>T | CA507076106 | NPHS1 | c.2544G>A (p.Lys848=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
19 | g.35842243_35842247del | CA913015903 | NPHS1 | c.2540_2544del (p.Thr847SerfsTer?)
| |
19 | g.35842243_35842247delinsCTTAG | CA2333847414 | NPHS1 | c.2540_2544delinsCTAAG (p.Thr847=)
| |
19 | g.35842244T>A | CA405392029 | NPHS1 | c.2543A>T (p.Lys848Met)
| dbSNP |
19 | g.35842244T>C | CA405392031 | NPHS1 | c.2543A>G (p.Lys848Arg)
| |
19 | g.35842244T>G | CA9390089 | NPHS1 | c.2543A>C (p.Lys848Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35842244T= | CA2333847415 | NPHS1 | c.2543A= (p.Lys848=)
| |
19 | g.35842248_35842251del | CA658824411 | NPHS1 | c.2540_2543del (p.Thr847ArgfsTer?)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35842245T>A | CA405392038 | NPHS1 | c.2542A>T (p.Lys848Ter)
| |
19 | g.35842245T>C | CA405392041 | NPHS1 | c.2542A>G (p.Lys848Glu)
| ClinVar gnomAD v4 |
19 | g.35842245T>G | CA405392043 | NPHS1 | c.2542A>C (p.Lys848Gln)
| |
19 | g.35842245_35842246delinsTA | CA2333847416 | NPHS1 | c.2541_2542delinsTA (p.Thr847=)
| |
19 | g.35842246del | CA658684229 | NPHS1 | c.2541del (p.Lys848ArgfsTer?)
| ClinVar dbSNP |
19 | g.35842246A= | CA2333847417 | NPHS1 | c.2541T= (p.Thr847=)
| |
19 | g.35842246A>C | CA507076124 | NPHS1 | c.2541T>G (p.Thr847=)
| |
19 | g.35842246A>G | CA507076122 | NPHS1 | c.2541T>C (p.Thr847=)
| |
19 | g.35842246A>T | CA307782224 | NPHS1 | c.2541T>A (p.Thr847=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35842247G>A | CA405392050 | NPHS1 | c.2540C>T (p.Thr847Ile)
| |
19 | g.35842247G>C | CA405392051 | NPHS1 | c.2540C>G (p.Thr847Ser)
| gnomAD v4 |
19 | g.35842247G>T | CA405392054 | NPHS1 | c.2540C>A (p.Thr847Asn)
| COSMIC |
19 | g.35842248T>A | CA405392056 | NPHS1 | c.2539A>T (p.Thr847Ser)
| |
19 | g.35842248T>C | CA405392059 | NPHS1 | c.2539A>G (p.Thr847Ala)
| |
19 | g.35842248T>G | CA405392062 | NPHS1 | c.2539A>C (p.Thr847Pro)
| gnomAD v4 |
19 | g.35842249T>A | CA507076136 | NPHS1 | c.2538A>T (p.Leu846=)
| |
19 | g.35842249T>C | CA507076137 | NPHS1 | c.2538A>G (p.Leu846=)
| |
19 | g.35842249T>G | CA507076139 | NPHS1 | c.2538A>C (p.Leu846=)
| gnomAD v4 |
19 | g.35842250A>C | CA405392070 | NPHS1 | c.2537T>G (p.Leu846Arg)
| COSMIC |
19 | g.35842250A>G | CA405392073 | NPHS1 | c.2537T>C (p.Leu846Pro)
| |
19 | g.35842250A>T | CA405392066 | NPHS1 | c.2537T>A (p.Leu846Gln)
| |
19 | g.35842251G>A | CA507076146 | NPHS1 | c.2536C>T (p.Leu846=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35842251G>C | CA405392075 | NPHS1 | c.2536C>G (p.Leu846Val)
| |
19 | g.35842251G= | CA2333847418 | NPHS1 | c.2536C= (p.Leu846=)
| |
19 | g.35842251G>T | CA405392079 | NPHS1 | c.2536C>A (p.Leu846Ile)
| |
19 | g.35842254del | CA2584602283 | NPHS1 | c.2536del (p.Leu846Ter)
| ClinVar gnomAD v4 |
19 | g.35842252G>A | CA507076149 | NPHS1 | c.2535C>T (p.Pro845=)
| gnomAD v4 |
19 | g.35842252G>C | CA507076152 | NPHS1 | c.2535C>G (p.Pro845=)
| |
19 | g.35842252G>T | CA507076156 | NPHS1 | c.2535C>A (p.Pro845=)
| |
19 | g.35842253G>A | CA307782228 | NPHS1 | c.2534C>T (p.Pro845Leu)
| dbSNP COSMIC |
19 | g.35842253G>C | CA405392088 | NPHS1 | c.2534C>G (p.Pro845Arg)
| |
19 | g.35842253G= | CA2333847419 | NPHS1 | c.2534C= (p.Pro845=)
| |
19 | g.35842253G>T | CA405392091 | NPHS1 | c.2534C>A (p.Pro845His)
| |
19 | g.35842254G>A | CA405392109 | NPHS1 | c.2533C>T (p.Pro845Ser)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35842254G>C | CA405392103 | NPHS1 | c.2533C>G (p.Pro845Ala)
| |
19 | g.35842254G= | CA2333847420 | NPHS1 | c.2533C= (p.Pro845=)
| |
19 | g.35842254G>T | CA9390090 | NPHS1 | c.2533C>A (p.Pro845Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35842255A>C | CA507076163 | NPHS1 | c.2532T>G (p.Thr844=)
| |
19 | g.35842255A>G | CA507076165 | NPHS1 | c.2532T>C (p.Thr844=)
| |
19 | g.35842255A>T | CA507076166 | NPHS1 | c.2532T>A (p.Thr844=)
| |
19 | g.35842256G>A | CA405392112 | NPHS1 | c.2531C>T (p.Thr844Ile)
| |
19 | g.35842256G>C | CA405392113 | NPHS1 | c.2531C>G (p.Thr844Ser)
| |
19 | g.35842256G>T | CA405392114 | NPHS1 | c.2531C>A (p.Thr844Asn)
| |
19 | g.35842256_35842257insA | CA2695228614 | NPHS1 | c.2530_2531insT (p.Thr844IlefsTer5)
| |
19 | g.35842257del | CA2697556473 | NPHS1 | c.2530del (p.Thr844LeufsTer3)
| ClinVar |
19 | g.35842257T>A | CA405392115 | NPHS1 | c.2530A>T (p.Thr844Ser)
| |
19 | g.35842257T>C | CA405392116 | NPHS1 | c.2530A>G (p.Thr844Ala)
| |
19 | g.35842257T>G | CA405392118 | NPHS1 | c.2530A>C (p.Thr844Pro)
| |
19 | g.35842258G>A | CA507076178 | NPHS1 | c.2529C>T (p.Pro843=)
| |
19 | g.35842258G>C | CA507076180 | NPHS1 | c.2529C>G (p.Pro843=)
| |
19 | g.35842258G>T | CA507076182 | NPHS1 | c.2529C>A (p.Pro843=)
| |
19 | g.35842261del | CA2584602284 | NPHS1 | c.2529del (p.Thr844LeufsTer3)
| gnomAD v4 |
19 | g.35842259G>A | CA405392123 | NPHS1 | c.2528C>T (p.Pro843Leu)
| |
19 | g.35842259G>C | CA405392128 | NPHS1 | c.2528C>G (p.Pro843Arg)
| |
19 | g.35842259G>T | CA405392121 | NPHS1 | c.2528C>A (p.Pro843His)
| gnomAD v4 |
19 | g.35842260G>A | CA405392133 | NPHS1 | c.2527C>T (p.Pro843Ser)
| dbSNP gnomAD v4 |
19 | g.35842260G>C | CA9390091 | NPHS1 | c.2527C>G (p.Pro843Ala)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35842260G= | CA2333847421 | NPHS1 | c.2527C= (p.Pro843=)
| |
19 | g.35842260G>T | CA405392134 | NPHS1 | c.2527C>A (p.Pro843Thr)
| |
19 | g.35842261G>A | CA307782237 | NPHS1 | c.2526C>T (p.His842=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35842261G>C | CA405392142 | NPHS1 | c.2526C>G (p.His842Gln)
| |
19 | g.35842261G= | CA2333847422 | NPHS1 | c.2526C= (p.His842=)
| |
19 | g.35842261G>T | CA405392145 | NPHS1 | c.2526C>A (p.His842Gln)
| dbSNP gnomAD v4 |
19 | g.35842262del | CA2695228615 | NPHS1 | c.2525del (p.His842ProfsTer5)
| |
19 | g.35842262T>A | CA405392148 | NPHS1 | c.2525A>T (p.His842Leu)
| |
19 | g.35842262T>C | CA405392154 | NPHS1 | c.2525A>G (p.His842Arg)
| |
19 | g.35842262T>G | CA405392150 | NPHS1 | c.2525A>C (p.His842Pro)
| ClinVar dbSNP |
19 | g.35842262T= | CA2333847423 | NPHS1 | c.2525A= (p.His842=)
| |
19 | g.35842263G>A | CA405392158 | NPHS1 | c.2524C>T (p.His842Tyr)
| |
19 | g.35842263G>C | CA405392161 | NPHS1 | c.2524C>G (p.His842Asp)
| |
19 | g.35842263G>T | CA405392164 | NPHS1 | c.2524C>A (p.His842Asn)
| |
19 | g.35842264C>A | CA405392168 | NPHS1 | c.2523G>T (p.Glu841Asp)
| |
19 | g.35842264C= | CA2333847424 | NPHS1 | c.2523G= (p.Glu841=)
| |
19 | g.35842264C>G | CA405392171 | NPHS1 | c.2523G>C (p.Glu841Asp)
| |
19 | g.35842264C>T | CA507076199 | NPHS1 | c.2523G>A (p.Glu841=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35842265T>A | CA405392174 | NPHS1 | c.2522A>T (p.Glu841Val)
| |
19 | g.35842265T>C | CA405392175 | NPHS1 | c.2522A>G (p.Glu841Gly)
| |
19 | g.35842265T>G | CA405392176 | NPHS1 | c.2522A>C (p.Glu841Ala)
| |
19 | g.35842266C>A | CA405392179 | NPHS1 | c.2521G>T (p.Glu841Ter)
| |
19 | g.35842266C= | CA2333847425 | NPHS1 | c.2521G= (p.Glu841=)
| |
19 | g.35842266C>G | CA405392181 | NPHS1 | c.2521G>C (p.Glu841Gln)
| |
19 | g.35842266C>T | CA9390092 | NPHS1 | c.2521G>A (p.Glu841Lys)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35842267C>A | CA507076217 | NPHS1 | c.2520G>T (p.Val840=)
| |
19 | g.35842267C= | CA2333847426 | NPHS1 | c.2520G= (p.Val840=)
| |
19 | g.35842267C>G | CA507076214 | NPHS1 | c.2520G>C (p.Val840=)
| |
19 | g.35842267C>T | CA9390093 | NPHS1 | c.2520G>A (p.Val840=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
19 | g.35842268A= | CA2333847427 | NPHS1 | c.2519T= (p.Val840=)
| |
19 | g.35842268A>C | CA9390094 | NPHS1 | c.2519T>G (p.Val840Gly)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
19 | g.35842268A>G | CA405392196 | NPHS1 | c.2519T>C (p.Val840Ala)
| |
19 | g.35842268A>T | CA405392193 | NPHS1 | c.2519T>A (p.Val840Glu)
| |
19 | g.35842269C>A | CA405392199 | NPHS1 | c.2518G>T (p.Val840Leu)
| |
19 | g.35842269C>G | CA405392203 | NPHS1 | c.2518G>C (p.Val840Leu)
| |
19 | g.35842269C>T | CA405392205 | NPHS1 | c.2518G>A (p.Val840Met)
| gnomAD v4 |
19 | g.35842270C>A | CA405392209 | NPHS1 | c.2517G>T (p.Gln839His)
| |
19 | g.35842270C= | CA2333847428 | NPHS1 | c.2517G= (p.Gln839=)
| |
19 | g.35842270C>G | CA405392212 | NPHS1 | c.2517G>C (p.Gln839His)
| |
19 | g.35842270C>T | CA9390095 | NPHS1 | c.2517G>A (p.Gln839=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35842271T>A | CA405392215 | NPHS1 | c.2516A>T (p.Gln839Leu)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35842271T>C | CA405392218 | NPHS1 | c.2516A>G (p.Gln839Arg)
| dbSNP gnomAD v2 |
19 | g.35842271T>G | CA405392220 | NPHS1 | c.2516A>C (p.Gln839Pro)
| |
19 | g.35842271T= | CA2333847430 | NPHS1 | c.2516A= (p.Gln839=)
| |
19 | g.35842271_35842272delinsTG | CA2333847429 | NPHS1 | c.2515_2516delinsCA (p.Gln839=)
| |
19 | g.35842272G>A | CA405392230 | NPHS1 | c.2515C>T (p.Gln839Ter)
| |
19 | g.35842272G>C | CA405392233 | NPHS1 | c.2515C>G (p.Gln839Glu)
| |
19 | g.35842272G>T | CA405392227 | NPHS1 | c.2515C>A (p.Gln839Lys)
| |
19 | g.35842277dup | CA2584602285 | NPHS1 | c.2515dup (p.Gln839ProfsTer10)
| gnomAD v4 |
19 | g.35842276_35842277dup | CA2695228616 | NPHS1 | c.2514_2515dup (p.Gln839ProfsTer9)
| |
19 | g.35842277del | CA250197 | NPHS1 | c.2515del (p.Gln839ArgfsTer8)
| ClinVar dbSNP gnomAD v4 |
19 | g.35842273G>A | CA507076249 | NPHS1 | c.2514C>T (p.Pro838=)
| ClinVar |
19 | g.35842273G>C | CA507076246 | NPHS1 | c.2514C>G (p.Pro838=)
| |
19 | g.35842273G= | CA2333847431 | NPHS1 | c.2514C= (p.Pro838=)
| |
19 | g.35842273G>T | CA9390096 | NPHS1 | c.2514C>A (p.Pro838=)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35842274G>A | CA405392238 | NPHS1 | c.2513C>T (p.Pro838Leu)
| |
19 | g.35842274G>C | CA405392240 | NPHS1 | c.2513C>G (p.Pro838Arg)
| |
19 | g.35842274G>T | CA405392243 | NPHS1 | c.2513C>A (p.Pro838His)
| |
19 | g.35842275G>A | CA405392247 | NPHS1 | c.2512C>T (p.Pro838Ser)
| ClinVar gnomAD v4 |
19 | g.35842275G>C | CA405392251 | NPHS1 | c.2512C>G (p.Pro838Ala)
| |
19 | g.35842275G>T | CA405392264 | NPHS1 | c.2512C>A (p.Pro838Thr)
| ClinVar dbSNP gnomAD v4 |
19 | g.35842276G>A | CA507076263 | NPHS1 | c.2511C>T (p.Ala837=)
| ClinVar dbSNP |
19 | g.35842276G>C | CA507076264 | NPHS1 | c.2511C>G (p.Ala837=)
| |
19 | g.35842276G>T | CA507076268 | NPHS1 | c.2511C>A (p.Ala837=)
| |
19 | g.35842277G>A | CA405392273 | NPHS1 | c.2510C>T (p.Ala837Val)
| |
19 | g.35842277G>C | CA405392276 | NPHS1 | c.2510C>G (p.Ala837Gly)
| |
19 | g.35842277G>T | CA405392282 | NPHS1 | c.2510C>A (p.Ala837Asp)
| gnomAD v4 |
19 | g.35842278C>A | CA9390097 | NPHS1 | c.2509G>T (p.Ala837Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35842278C= | CA2333847432 | NPHS1 | c.2509G= (p.Ala837=)
| |
19 | g.35842278C>G | CA405392297 | NPHS1 | c.2509G>C (p.Ala837Pro)
| |
19 | g.35842278C>T | CA405392299 | NPHS1 | c.2509G>A (p.Ala837Thr)
| dbSNP gnomAD v2 gnomAD v4 |
19 | g.35842279A>C | CA405392305 | NPHS1 | c.2508T>G (p.Phe836Leu)
| |
19 | g.35842279A>G | CA507076285 | NPHS1 | c.2508T>C (p.Phe836=)
| ClinVar gnomAD v4 |
19 | g.35842279A>T | CA405392316 | NPHS1 | c.2508T>A (p.Phe836Leu)
| |
19 | g.35842280A= | CA2333847433 | NPHS1 | c.2507T= (p.Phe836=)
| |
19 | g.35842280A>C | CA405392322 | NPHS1 | c.2507T>G (p.Phe836Cys)
| |
19 | g.35842280A>G | CA405392326 | NPHS1 | c.2507T>C (p.Phe836Ser)
| dbSNP |
19 | g.35842280A>T | CA405392329 | NPHS1 | c.2507T>A (p.Phe836Tyr)
| |
19 | g.35842281C>A | CA405392330 | NPHS1 | c.2507-1G>T (n.2507-1G>T)
| |
19 | g.35842281C>G | CA405392335 | NPHS1 | c.2507-1G>C (n.2507-1G>C)
| |
19 | g.35842281C>T | CA405392338 | NPHS1 | c.2507-1G>A (n.2507-1G>A)
| |
19 | g.35842282T>A | CA405392347 | NPHS1 | c.2507-2A>T (n.2507-2A>T)
| |
19 | g.35842282T>C | CA405392348 | NPHS1 | c.2507-2A>G (n.2507-2A>G)
| ClinVar dbSNP |
19 | g.35842282T>G | CA405392350 | NPHS1 | c.2507-2A>C (n.2507-2A>C)
| |