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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.35849533C= | CA2333850951 | NPHS1 | c.712+17G= (n.712+17G=) | |
| 19 | g.35849533C>T | CA9390691 | NPHS1 | c.712+17G>A (n.712+17G>A) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849534C>A | CA2841522935 | NPHS1 | c.712+16G>T (n.712+16G>T) | |
| 19 | g.35849534C>G | CA2584603981 | NPHS1 | c.712+16G>C (n.712+16G>C) | gnomAD v4 |
| 19 | g.35849534C>T | CA507085326 | NPHS1 | c.712+16G>A (n.712+16G>A) | |
| 19 | g.35849535C= | CA2333850952 | NPHS1 | c.712+15G= (n.712+15G=) | |
| 19 | g.35849535C>T | CA632776749 | NPHS1 | c.712+15G>A (n.712+15G>A) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35849536A>G | CA2584603982 | NPHS1 | c.712+14T>C (n.712+14T>C) | gnomAD v4 |
| 19 | g.35849537G>T | CA2584603983 | NPHS1 | c.712+13C>A (n.712+13C>A) | gnomAD v4 |
| 19 | g.35849538T>C | CA2814252681 | NPHS1 | c.712+12A>G (n.712+12A>G) | |
| 19 | g.35849539T>A | CA307788956 | NPHS1 | c.712+11A>T (n.712+11A>T) | ClinVar dbSNP |
| 19 | g.35849539T= | CA2333850953 | NPHS1 | c.712+11A= (n.712+11A=) | |
| 19 | g.35849540C>A | CA2584603984 | NPHS1 | c.712+10G>T (n.712+10G>T) | gnomAD v4 |
| 19 | g.35849540C>T | CA2584603985 | NPHS1 | c.712+10G>A (n.712+10G>A) | gnomAD v4 |
| 19 | g.35849541T>C | CA632776750 | NPHS1 | c.712+9A>G (n.712+9A>G) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35849541T= | CA2333850954 | NPHS1 | c.712+9A= (n.712+9A=) | |
| 19 | g.35849542C= | CA2333850955 | NPHS1 | c.712+8G= (n.712+8G=) | |
| 19 | g.35849542C>T | CA881820929 | NPHS1 | c.712+8G>A (n.712+8G>A) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35849543C>T | CA2584603986 | NPHS1 | c.712+7G>A (n.712+7G>A) | gnomAD v4 |
| 19 | g.35849545del | CA2576758993 | NPHS1 | c.712+5del (n.712+5del) | |
| 19 | g.35849547T>C | CA2584603987 | NPHS1 | c.712+3A>G (n.712+3A>G) | gnomAD v4 |
| 19 | g.35849548A>C | CA405407895 | NPHS1 | c.712+2T>G (n.712+2T>G) | |
| 19 | g.35849548A>G | CA405407898 | NPHS1 | c.712+2T>C (n.712+2T>C) | |
| 19 | g.35849548A>T | CA405407894 | NPHS1 | c.712+2T>A (n.712+2T>A) | |
| 19 | g.35849549C>A | CA405407899 | NPHS1 | c.712+1G>T (n.712+1G>T) | |
| 19 | g.35849549C>G | CA405407900 | NPHS1 | c.712+1G>C (n.712+1G>C) | |
| 19 | g.35849549C>T | CA405407901 | NPHS1 | c.712+1G>A (n.712+1G>A) | ClinVar COSMIC |
| 19 | g.35849550del | CA2584603988 | NPHS1 | c.712del (p.Phe238SerfsTer?) | ClinVar gnomAD v4 |
| 19 | g.35849550A>C | CA405407903 | NPHS1 | c.712T>G (p.Phe238Val) | |
| 19 | g.35849550A>G | CA405407904 | NPHS1 | c.712T>C (p.Phe238Leu) | |
| 19 | g.35849550A>T | CA405407907 | NPHS1 | c.712T>A (p.Phe238Ile) | |
| 19 | g.35849551C>A | CA507085329 | NPHS1 | c.711G>T (p.Leu237=) | |
| 19 | g.35849551C>G | CA507085328 | NPHS1 | c.711G>C (p.Leu237=) | |
| 19 | g.35849551C>T | CA507085327 | NPHS1 | c.711G>A (p.Leu237=) | gnomAD v4 |
| 19 | g.35849552A= | CA2333850956 | NPHS1 | c.710T= (p.Leu237=) | |
| 19 | g.35849552A>C | CA405407914 | NPHS1 | c.710T>G (p.Leu237Arg) | |
| 19 | g.35849552A>G | CA9390693 | NPHS1 | c.710T>C (p.Leu237Pro) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35849552A>T | CA9390692 | NPHS1 | c.710T>A (p.Leu237Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849553G>A | CA507085330 | NPHS1 | c.709C>T (p.Leu237=) | dbSNP |
| 19 | g.35849553G>C | CA405407917 | NPHS1 | c.709C>G (p.Leu237Val) | |
| 19 | g.35849553G>T | CA405407920 | NPHS1 | c.709C>A (p.Leu237Met) | |
| 19 | g.35849554A>C | CA507085331 | NPHS1 | c.708T>G (p.Val236=) | |
| 19 | g.35849554A>G | CA507085332 | NPHS1 | c.708T>C (p.Val236=) | |
| 19 | g.35849554A>T | CA507085333 | NPHS1 | c.708T>A (p.Val236=) | |
| 19 | g.35849555A>C | CA405407923 | NPHS1 | c.707T>G (p.Val236Gly) | |
| 19 | g.35849555A>G | CA405407926 | NPHS1 | c.707T>C (p.Val236Ala) | |
| 19 | g.35849555A>T | CA405407929 | NPHS1 | c.707T>A (p.Val236Asp) | |
| 19 | g.35849556C>A | CA405407934 | NPHS1 | c.706G>T (p.Val236Phe) | |
| 19 | g.35849556C= | CA2333850957 | NPHS1 | c.706G= (p.Val236=) | |
| 19 | g.35849556C>G | CA307788968 | NPHS1 | c.706G>C (p.Val236Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35849556C>T | CA405407937 | NPHS1 | c.706G>A (p.Val236Ile) | |
| 19 | g.35849557A>C | CA405407942 | NPHS1 | c.705T>G (p.Asn235Lys) | |
| 19 | g.35849557A>G | CA507085334 | NPHS1 | c.705T>C (p.Asn235=) | gnomAD v4 |
| 19 | g.35849557A>T | CA405407945 | NPHS1 | c.705T>A (p.Asn235Lys) | |
| 19 | g.35849558T>A | CA405407948 | NPHS1 | c.704A>T (p.Asn235Ile) | |
| 19 | g.35849558T>C | CA9390694 | NPHS1 | c.704A>G (p.Asn235Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35849558T>G | CA405407951 | NPHS1 | c.704A>C (p.Asn235Thr) | gnomAD v4 |
| 19 | g.35849558T= | CA2333850958 | NPHS1 | c.704A= (p.Asn235=) | |
| 19 | g.35849559T>A | CA405407952 | NPHS1 | c.703A>T (p.Asn235Tyr) | |
| 19 | g.35849559T>C | CA405407953 | NPHS1 | c.703A>G (p.Asn235Asp) | |
| 19 | g.35849559T>G | CA405407956 | NPHS1 | c.703A>C (p.Asn235His) | |
| 19 | g.35849560C>A | CA507085335 | NPHS1 | c.702G>T (p.Val234=) | gnomAD v4 |
| 19 | g.35849560C= | CA2333850959 | NPHS1 | c.702G= (p.Val234=) | |
| 19 | g.35849560C>G | CA507085336 | NPHS1 | c.702G>C (p.Val234=) | |
| 19 | g.35849560C>T | CA9390695 | NPHS1 | c.702G>A (p.Val234=) | dbSNP ExAC gnomAD v4 |
| 19 | g.35849561A>C | CA405407958 | NPHS1 | c.701T>G (p.Val234Gly) | |
| 19 | g.35849561A>G | CA405407960 | NPHS1 | c.701T>C (p.Val234Ala) | |
| 19 | g.35849561A>T | CA405407963 | NPHS1 | c.701T>A (p.Val234Glu) | |
| 19 | g.35849561dup | CA2584603989 | NPHS1 | c.701dup (p.Asn235GlufsTer18) | gnomAD v4 |
| 19 | g.35849562C>A | CA9390696 | NPHS1 | c.700G>T (p.Val234Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35849562C= | CA2333850960 | NPHS1 | c.700G= (p.Val234=) | |
| 19 | g.35849562C>G | CA405407969 | NPHS1 | c.700G>C (p.Val234Leu) | gnomAD v4 |
| 19 | g.35849562C>T | CA307788975 | NPHS1 | c.700G>A (p.Val234Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849563G>A | CA9390697 | NPHS1 | c.699C>T (p.Thr233=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849563G>C | CA507085337 | NPHS1 | c.699C>G (p.Thr233=) | |
| 19 | g.35849563G= | CA2333850961 | NPHS1 | c.699C= (p.Thr233=) | |
| 19 | g.35849563G>T | CA507085338 | NPHS1 | c.699C>A (p.Thr233=) | gnomAD v4 COSMIC |
| 19 | g.35849564del | CA2697556482 | NPHS1 | c.699del (p.Val234Ter) | ClinVar |
| 19 | g.35849564G>A | CA405407973 | NPHS1 | c.698C>T (p.Thr233Ile) | |
| 19 | g.35849564G>C | CA405407975 | NPHS1 | c.698C>G (p.Thr233Ser) | gnomAD v4 |
| 19 | g.35849564G>T | CA405407979 | NPHS1 | c.698C>A (p.Thr233Asn) | |
| 19 | g.35849565T>A | CA405407981 | NPHS1 | c.697A>T (p.Thr233Ser) | |
| 19 | g.35849565T>C | CA9390698 | NPHS1 | c.697A>G (p.Thr233Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849565T>G | CA405407983 | NPHS1 | c.697A>C (p.Thr233Pro) | |
| 19 | g.35849565T= | CA2333850962 | NPHS1 | c.697A= (p.Thr233=) | |
| 19 | g.35849566G>A | CA507085339 | NPHS1 | c.696C>T (p.Phe232=) | dbSNP |
| 19 | g.35849566G>C | CA405407985 | NPHS1 | c.696C>G (p.Phe232Leu) | |
| 19 | g.35849566G= | CA2333850963 | NPHS1 | c.696C= (p.Phe232=) | |
| 19 | g.35849566G>T | CA405407987 | NPHS1 | c.696C>A (p.Phe232Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849567A>C | CA405407990 | NPHS1 | c.695T>G (p.Phe232Cys) | |
| 19 | g.35849567A>G | CA405407991 | NPHS1 | c.695T>C (p.Phe232Ser) | |
| 19 | g.35849567A>T | CA405407992 | NPHS1 | c.695T>A (p.Phe232Tyr) | |
| 19 | g.35849568A>C | CA405407993 | NPHS1 | c.694T>G (p.Phe232Val) | gnomAD v4 |
| 19 | g.35849568A>G | CA405407997 | NPHS1 | c.694T>C (p.Phe232Leu) | |
| 19 | g.35849568A>T | CA405408000 | NPHS1 | c.694T>A (p.Phe232Ile) | |
| 19 | g.35849569T>A | CA507085340 | NPHS1 | c.693A>T (p.Ser231=) | |
| 19 | g.35849569T>C | CA507085341 | NPHS1 | c.693A>G (p.Ser231=) | |
| 19 | g.35849569T>G | CA507085342 | NPHS1 | c.693A>C (p.Ser231=) | |
| 19 | g.35849570G>A | CA405408005 | NPHS1 | c.692C>T (p.Ser231Leu) | |
| 19 | g.35849570G>C | CA405408004 | NPHS1 | c.692C>G (p.Ser231Ter) | |
| 19 | g.35849570G= | CA2333850964 | NPHS1 | c.692C= (p.Ser231=) | |
| 19 | g.35849570G>T | CA250267 | NPHS1 | c.692C>A (p.Ser231Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35849571A>C | CA405408007 | NPHS1 | c.691T>G (p.Ser231Ala) | |
| 19 | g.35849571A>G | CA405408009 | NPHS1 | c.691T>C (p.Ser231Pro) | |
| 19 | g.35849571A>T | CA405408011 | NPHS1 | c.691T>A (p.Ser231Thr) | |
| 19 | g.35849571dup | CA2839075541 | NPHS1 | c.691dup (p.Ser231PhefsTer22) | |
| 19 | g.35849572G>A | CA507085343 | NPHS1 | c.690C>T (p.Ala230=) | |
| 19 | g.35849572G>C | CA507085344 | NPHS1 | c.690C>G (p.Ala230=) | |
| 19 | g.35849572G>T | CA507085345 | NPHS1 | c.690C>A (p.Ala230=) | |
| 19 | g.35849573del | CA2841522936 | NPHS1 | c.690del (p.Ser231HisfsTer4) | |
| 19 | g.35849573G>A | CA9390699 | NPHS1 | c.689C>T (p.Ala230Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849573G>C | CA405408017 | NPHS1 | c.689C>G (p.Ala230Gly) | |
| 19 | g.35849573G= | CA2333850965 | NPHS1 | c.689C= (p.Ala230=) | |
| 19 | g.35849573G>T | CA405408020 | NPHS1 | c.689C>A (p.Ala230Asp) | gnomAD v4 |
| 19 | g.35849574C>A | CA405408024 | NPHS1 | c.688G>T (p.Ala230Ser) | gnomAD v4 |
| 19 | g.35849574C= | CA2333850966 | NPHS1 | c.688G= (p.Ala230=) | |
| 19 | g.35849574C>G | CA405408026 | NPHS1 | c.688G>C (p.Ala230Pro) | |
| 19 | g.35849574C>T | CA405408028 | NPHS1 | c.688G>A (p.Ala230Thr) | dbSNP gnomAD v4 |
| 19 | g.35849575C>A | CA405408032 | NPHS1 | c.687G>T (p.Lys229Asn) | |
| 19 | g.35849575C>G | CA405408033 | NPHS1 | c.687G>C (p.Lys229Asn) | |
| 19 | g.35849575C>T | CA507085346 | NPHS1 | c.687G>A (p.Lys229=) | |
| 19 | g.35849576T>A | CA405408037 | NPHS1 | c.686A>T (p.Lys229Met) | |
| 19 | g.35849576T>C | CA405408041 | NPHS1 | c.686A>G (p.Lys229Arg) | |
| 19 | g.35849576T>G | CA405408044 | NPHS1 | c.686A>C (p.Lys229Thr) | |
| 19 | g.35849577T>A | CA405408052 | NPHS1 | c.685A>T (p.Lys229Ter) | |
| 19 | g.35849577T>C | CA405408055 | NPHS1 | c.685A>G (p.Lys229Glu) | |
| 19 | g.35849577T>G | CA405408049 | NPHS1 | c.685A>C (p.Lys229Gln) | gnomAD v4 |
| 19 | g.35849578G>A | CA507085347 | NPHS1 | c.684C>T (p.Ile228=) | COSMIC |
| 19 | g.35849578G>C | CA405408057 | NPHS1 | c.684C>G (p.Ile228Met) | gnomAD v4 COSMIC |
| 19 | g.35849578G>T | CA507085348 | NPHS1 | c.684C>A (p.Ile228=) | gnomAD v4 |
| 19 | g.35849579A= | CA2333850967 | NPHS1 | c.683T= (p.Ile228=) | |
| 19 | g.35849579A>C | CA405408060 | NPHS1 | c.683T>G (p.Ile228Ser) | |
| 19 | g.35849579A>G | CA307789007 | NPHS1 | c.683T>C (p.Ile228Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35849579A>T | CA405408064 | NPHS1 | c.683T>A (p.Ile228Asn) | |
| 19 | g.35849580T>A | CA405408067 | NPHS1 | c.682A>T (p.Ile228Phe) | |
| 19 | g.35849580T>C | CA405408070 | NPHS1 | c.682A>G (p.Ile228Val) | |
| 19 | g.35849580T>G | CA405408073 | NPHS1 | c.682A>C (p.Ile228Leu) | |
| 19 | g.35849581G>A | CA507085349 | NPHS1 | c.681C>T (p.Pro227=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849581G>C | CA507085350 | NPHS1 | c.681C>G (p.Pro227=) | |
| 19 | g.35849581G= | CA2333850968 | NPHS1 | c.681C= (p.Pro227=) | |
| 19 | g.35849581G>T | CA507085351 | NPHS1 | c.681C>A (p.Pro227=) | |
| 19 | g.35849582G>A | CA405408077 | NPHS1 | c.680C>T (p.Pro227Leu) | COSMIC |
| 19 | g.35849582G>C | CA9390700 | NPHS1 | c.680C>G (p.Pro227Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35849582G= | CA2333850969 | NPHS1 | c.680C= (p.Pro227=) | |
| 19 | g.35849582G>T | CA405408083 | NPHS1 | c.680C>A (p.Pro227His) | |
| 19 | g.35849583G>A | CA405408085 | NPHS1 | c.679C>T (p.Pro227Ser) | |
| 19 | g.35849583G>C | CA405408087 | NPHS1 | c.679C>G (p.Pro227Ala) | |
| 19 | g.35849583G>T | CA405408090 | NPHS1 | c.679C>A (p.Pro227Thr) | |
| 19 | g.35849584G>A | CA507085352 | NPHS1 | c.678C>T (p.Ala226=) | ClinVar gnomAD v4 |
| 19 | g.35849584G>C | CA507085353 | NPHS1 | c.678C>G (p.Ala226=) | |
| 19 | g.35849584G>T | CA507085354 | NPHS1 | c.678C>A (p.Ala226=) | ClinVar dbSNP |
| 19 | g.35849585G>A | CA9390701 | NPHS1 | c.677C>T (p.Ala226Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849585G>C | CA405408094 | NPHS1 | c.677C>G (p.Ala226Gly) | gnomAD v4 |
| 19 | g.35849585G= | CA2333850970 | NPHS1 | c.677C= (p.Ala226=) | |
| 19 | g.35849585G>T | CA405408097 | NPHS1 | c.677C>A (p.Ala226Asp) | |
| 19 | g.35849586C>A | CA405408106 | NPHS1 | c.676G>T (p.Ala226Ser) | gnomAD v4 |
| 19 | g.35849586C>G | CA405408109 | NPHS1 | c.676G>C (p.Ala226Pro) | |
| 19 | g.35849586C>T | CA405408112 | NPHS1 | c.676G>A (p.Ala226Thr) | |
| 19 | g.35849587C>A | CA405408116 | NPHS1 | c.675G>T (p.Glu225Asp) | |
| 19 | g.35849587C>G | CA405408118 | NPHS1 | c.675G>C (p.Glu225Asp) | |
| 19 | g.35849587C>T | CA507085355 | NPHS1 | c.675G>A (p.Glu225=) | |
| 19 | g.35849588T>A | CA405408121 | NPHS1 | c.674A>T (p.Glu225Val) | |
| 19 | g.35849588T>C | CA405408123 | NPHS1 | c.674A>G (p.Glu225Gly) | gnomAD v4 |
| 19 | g.35849588T>G | CA405408126 | NPHS1 | c.674A>C (p.Glu225Ala) | |
| 19 | g.35849589C>A | CA405408130 | NPHS1 | c.673G>T (p.Glu225Ter) | |
| 19 | g.35849589C>G | CA405408134 | NPHS1 | c.673G>C (p.Glu225Gln) | ClinVar |
| 19 | g.35849589C>T | CA405408138 | NPHS1 | c.673G>A (p.Glu225Lys) | |
| 19 | g.35849590C>A | CA507085356 | NPHS1 | c.672G>T (p.Leu224=) | |
| 19 | g.35849590C= | CA2333850971 | NPHS1 | c.672G= (p.Leu224=) | |
| 19 | g.35849590C>G | CA507085357 | NPHS1 | c.672G>C (p.Leu224=) | |
| 19 | g.35849590C>T | CA507085358 | NPHS1 | c.672G>A (p.Leu224=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.35849591A>C | CA405408154 | NPHS1 | c.671T>G (p.Leu224Arg) | |
| 19 | g.35849591A>G | CA405408160 | NPHS1 | c.671T>C (p.Leu224Pro) | |
| 19 | g.35849591A>T | CA405408150 | NPHS1 | c.671T>A (p.Leu224Gln) | |
| 19 | g.35849591dup | CA9390702 | NPHS1 | c.671dup (p.Glu225GlyfsTer28) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35849592G>A | CA507085364 | NPHS1 | c.670C>T (p.Leu224=) | gnomAD v4 |
| 19 | g.35849592G>C | CA405408166 | NPHS1 | c.670C>G (p.Leu224Val) | gnomAD v4 |
| 19 | g.35849592G>T | CA405408162 | NPHS1 | c.670C>A (p.Leu224Met) | gnomAD v4 |
| 19 | g.35849593T>A | CA507085373 | NPHS1 | c.669A>T (p.Ala223=) | |
| 19 | g.35849593T>C | CA507085369 | NPHS1 | c.669A>G (p.Ala223=) | gnomAD v4 |
| 19 | g.35849593T>G | CA507085371 | NPHS1 | c.669A>C (p.Ala223=) | gnomAD v4 |
| 19 | g.35849594G>A | CA405408171 | NPHS1 | c.668C>T (p.Ala223Val) | |
| 19 | g.35849594G>C | CA405408174 | NPHS1 | c.668C>G (p.Ala223Gly) | gnomAD v4 |
| 19 | g.35849594G>T | CA405408178 | NPHS1 | c.668C>A (p.Ala223Glu) | |
| 19 | g.35849595C>A | CA405408179 | NPHS1 | c.667G>T (p.Ala223Ser) | |
| 19 | g.35849595C= | CA2333850972 | NPHS1 | c.667G= (p.Ala223=) | |
| 19 | g.35849595C>G | CA405408180 | NPHS1 | c.667G>C (p.Ala223Pro) | |
| 19 | g.35849595C>T | CA9390703 | NPHS1 | c.667G>A (p.Ala223Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35849596T>A | CA9390704 | NPHS1 | c.666A>T (p.Pro222=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35849596T>C | CA507085385 | NPHS1 | c.666A>G (p.Pro222=) | ClinVar dbSNP gnomAD v4 |
| 19 | g.35849596T>G | CA507085386 | NPHS1 | c.666A>C (p.Pro222=) | |
| 19 | g.35849596T= | CA2333850973 | NPHS1 | c.666A= (p.Pro222=) | |
| 19 | g.35849597G>A | CA9390705 | NPHS1 | c.665C>T (p.Pro222Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849597G>C | CA405408188 | NPHS1 | c.665C>G (p.Pro222Arg) | gnomAD v4 |
| 19 | g.35849597G= | CA2333850974 | NPHS1 | c.665C= (p.Pro222=) | |
| 19 | g.35849597G>T | CA405408191 | NPHS1 | c.665C>A (p.Pro222Gln) | |
| 19 | g.35849597_35849598delinsAT | CA645619650 | NPHS1 | c.664_665delinsAT (p.Pro222Ile) | COSMIC |
| 19 | g.35849599dup | CA2838873368 | NPHS1 | c.665dup (p.Ala223SerfsTer30) | |
| 19 | g.35849598G>A | CA405408202 | NPHS1 | c.664C>T (p.Pro222Ser) | |
| 19 | g.35849598G>C | CA405408200 | NPHS1 | c.664C>G (p.Pro222Ala) | |
| 19 | g.35849598G>T | CA405408196 | NPHS1 | c.664C>A (p.Pro222Thr) | |
| 19 | g.35849599G>A | CA507085396 | NPHS1 | c.663C>T (p.Ser221=) | |
| 19 | g.35849599G>C | CA405408210 | NPHS1 | c.663C>G (p.Ser221Arg) | |
| 19 | g.35849599G>T | CA405408213 | NPHS1 | c.663C>A (p.Ser221Arg) | |
| 19 | g.35849599_35849601delinsGCT | CA2333850975 | NPHS1 | c.661_663delinsAGC (p.Ser221=) | |
| 19 | g.35849600C>A | CA405408215 | NPHS1 | c.662G>T (p.Ser221Ile) | |
| 19 | g.35849600C>G | CA405408217 | NPHS1 | c.662G>C (p.Ser221Thr) | |
| 19 | g.35849600C>T | CA405408218 | NPHS1 | c.662G>A (p.Ser221Asn) | |
| 19 | g.35849600_35849601del | CA250266 | NPHS1 | c.661_662del (p.Ser221ProfsTer?) | ClinVar dbSNP |
| 19 | g.35849601T>A | CA405408226 | NPHS1 | c.661A>T (p.Ser221Cys) | |
| 19 | g.35849601T>C | CA405408229 | NPHS1 | c.661A>G (p.Ser221Gly) | gnomAD v4 |
| 19 | g.35849601T>G | CA405408241 | NPHS1 | c.661A>C (p.Ser221Arg) | |
| 19 | g.35849602A>C | CA507085406 | NPHS1 | c.660T>G (p.Ser220=) | |
| 19 | g.35849602A>G | CA507085408 | NPHS1 | c.660T>C (p.Ser220=) | |
| 19 | g.35849602A>T | CA507085410 | NPHS1 | c.660T>A (p.Ser220=) | |
| 19 | g.35849603G>A | CA405408244 | NPHS1 | c.659C>T (p.Ser220Phe) | |
| 19 | g.35849603G>C | CA405408247 | NPHS1 | c.659C>G (p.Ser220Cys) | |
| 19 | g.35849603G>T | CA405408251 | NPHS1 | c.659C>A (p.Ser220Tyr) | |
| 19 | g.35849604A= | CA2333850976 | NPHS1 | c.658T= (p.Ser220=) | |
| 19 | g.35849604A>C | CA9390706 | NPHS1 | c.658T>G (p.Ser220Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849604A>G | CA405408253 | NPHS1 | c.658T>C (p.Ser220Pro) | |
| 19 | g.35849604A>T | CA405408252 | NPHS1 | c.658T>A (p.Ser220Thr) | gnomAD v4 |
| 19 | g.35849605C>A | CA507085419 | NPHS1 | c.657G>T (p.Ala219=) | |
| 19 | g.35849605C= | CA2333850977 | NPHS1 | c.657G= (p.Ala219=) | |
| 19 | g.35849605C>G | CA507085421 | NPHS1 | c.657G>C (p.Ala219=) | |
| 19 | g.35849605C>T | CA9390707 | NPHS1 | c.657G>A (p.Ala219=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.35849606G>A | CA9390708 | NPHS1 | c.656C>T (p.Ala219Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.35849606G>C | CA405408260 | NPHS1 | c.656C>G (p.Ala219Gly) | |
| 19 | g.35849606G= | CA2333850978 | NPHS1 | c.656C= (p.Ala219=) | |
| 19 | g.35849606G>T | CA405408262 | NPHS1 | c.656C>A (p.Ala219Glu) | |
| 19 | g.35849607C>A | CA405408269 | NPHS1 | c.655G>T (p.Ala219Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35849607C= | CA2333850979 | NPHS1 | c.655G= (p.Ala219=) | |
| 19 | g.35849607C>G | CA405408273 | NPHS1 | c.655G>C (p.Ala219Pro) | |
| 19 | g.35849607C>T | CA405408275 | NPHS1 | c.655G>A (p.Ala219Thr) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35849608C>A | CA405408277 | NPHS1 | c.654G>T (p.Glu218Asp) | |
| 19 | g.35849608C>G | CA405408279 | NPHS1 | c.654G>C (p.Glu218Asp) | |
| 19 | g.35849608C>T | CA507085437 | NPHS1 | c.654G>A (p.Glu218=) | |
| 19 | g.35849609T>A | CA405408284 | NPHS1 | c.653A>T (p.Glu218Val) | |
| 19 | g.35849609T>C | CA405408286 | NPHS1 | c.653A>G (p.Glu218Gly) | |
| 19 | g.35849609T>G | CA405408290 | NPHS1 | c.653A>C (p.Glu218Ala) | |
| 19 | g.35849610C>A | CA405408301 | NPHS1 | c.652G>T (p.Glu218Ter) | |
| 19 | g.35849610C>G | CA405408294 | NPHS1 | c.652G>C (p.Glu218Gln) | |
| 19 | g.35849610C>T | CA405408296 | NPHS1 | c.652G>A (p.Glu218Lys) | gnomAD v4 |
| 19 | g.35849612_35849613del | CA2695228644 | NPHS1 | c.651_652del (p.Cys217Ter) | |
| 19 | g.35849611A>C | CA405408304 | NPHS1 | c.651T>G (p.Cys217Trp) | COSMIC |
| 19 | g.35849611A>G | CA507085444 | NPHS1 | c.651T>C (p.Cys217=) | |
| 19 | g.35849611A>T | CA405408308 | NPHS1 | c.651T>A (p.Cys217Ter) | |
| 19 | g.35849612C>A | CA405408316 | NPHS1 | c.650G>T (p.Cys217Phe) | |
| 19 | g.35849612C>G | CA405408317 | NPHS1 | c.650G>C (p.Cys217Ser) | |
| 19 | g.35849612C>T | CA405408321 | NPHS1 | c.650G>A (p.Cys217Tyr) | |
| 19 | g.35849613del | CA2573156265 | NPHS1 | c.649del (p.Cys217ValfsTer18) | ClinVar dbSNP |
| 19 | g.35849613A>C | CA405408329 | NPHS1 | c.649T>G (p.Cys217Gly) | |
| 19 | g.35849613A>G | CA405408333 | NPHS1 | c.649T>C (p.Cys217Arg) | |
| 19 | g.35849613A>T | CA405408336 | NPHS1 | c.649T>A (p.Cys217Ser) | |
| 19 | g.35849614G>A | CA507085453 | NPHS1 | c.648C>T (p.Val216=) | |
| 19 | g.35849614G>C | CA507085451 | NPHS1 | c.648C>G (p.Val216=) | |
| 19 | g.35849614G= | CA2333850980 | NPHS1 | c.648C= (p.Val216=) | |
| 19 | g.35849614G>T | CA9390709 | NPHS1 | c.648C>A (p.Val216=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35849615A>C | CA405408344 | NPHS1 | c.647T>G (p.Val216Gly) | |
| 19 | g.35849615A>G | CA405408348 | NPHS1 | c.647T>C (p.Val216Ala) | |
| 19 | g.35849615A>T | CA405408352 | NPHS1 | c.647T>A (p.Val216Asp) | |
| 19 | g.35849616C>A | CA405408362 | NPHS1 | c.646G>T (p.Val216Phe) | |
| 19 | g.35849616C= | CA2333850981 | NPHS1 | c.646G= (p.Val216=) | |
| 19 | g.35849616C>G | CA9390710 | NPHS1 | c.646G>C (p.Val216Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.35849616C>T | CA405408358 | NPHS1 | c.646G>A (p.Val216Ile) | |
| 19 | g.35849617C>A | CA507085463 | NPHS1 | c.645G>T (p.Leu215=) | COSMIC |
| 19 | g.35849617C>G | CA507085465 | NPHS1 | c.645G>C (p.Leu215=) | |
| 19 | g.35849617C>T | CA507085467 | NPHS1 | c.645G>A (p.Leu215=) | |
| 19 | g.35849618A= | CA2333850982 | NPHS1 | c.644T= (p.Leu215=) | |
| 19 | g.35849618A>C | CA9390711 | NPHS1 | c.644T>G (p.Leu215Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35849618A>G | CA405408369 | NPHS1 | c.644T>C (p.Leu215Pro) | |
| 19 | g.35849618A>T | CA405408372 | NPHS1 | c.644T>A (p.Leu215Gln) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35849619G>A | CA507085474 | NPHS1 | c.643C>T (p.Leu215=) | |
| 19 | g.35849619G>C | CA405408378 | NPHS1 | c.643C>G (p.Leu215Val) | |
| 19 | g.35849619G>T | CA405408382 | NPHS1 | c.643C>A (p.Leu215Met) | |
| 19 | g.35849620C>A | CA405408388 | NPHS1 | c.642G>T (p.Leu214Phe) | |
| 19 | g.35849620C>G | CA405408395 | NPHS1 | c.642G>C (p.Leu214Phe) | |
| 19 | g.35849620C>T | CA507085476 | NPHS1 | c.642G>A (p.Leu214=) | |
| 19 | g.35849621A= | CA2333850983 | NPHS1 | c.641T= (p.Leu214=) | |
| 19 | g.35849621A>C | CA405408400 | NPHS1 | c.641T>G (p.Leu214Trp) | |
| 19 | g.35849621A>G | CA405408402 | NPHS1 | c.641T>C (p.Leu214Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.35849621A>T | CA405408405 | NPHS1 | c.641T>A (p.Leu214Ter) | ClinVar |
| 19 | g.35849622A>C | CA405408409 | NPHS1 | c.640T>G (p.Leu214Val) | |
| 19 | g.35849622A>G | CA507085484 | NPHS1 | c.640T>C (p.Leu214=) | |
| 19 | g.35849622A>T | CA405408413 | NPHS1 | c.640T>A (p.Leu214Met) | |
| 19 | g.35849623C>A | CA9390712 | NPHS1 | c.639G>T (p.Gln213His) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.35849623C= | CA2333850984 | NPHS1 | c.639G= (p.Gln213=) | |
| 19 | g.35849623C>G | CA307789097 | NPHS1 | c.639G>C (p.Gln213His) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35849623C>T | CA507085491 | NPHS1 | c.639G>A (p.Gln213=) | ClinVar gnomAD v4 |
| 19 | g.35849624T>A | CA405408432 | NPHS1 | c.638A>T (p.Gln213Leu) | |
| 19 | g.35849624T>C | CA405408423 | NPHS1 | c.638A>G (p.Gln213Arg) | |
| 19 | g.35849624T>G | CA405408427 | NPHS1 | c.638A>C (p.Gln213Pro) | |
| 19 | g.35849625G>A | CA405408439 | NPHS1 | c.637C>T (p.Gln213Ter) | |
| 19 | g.35849625G>C | CA405408441 | NPHS1 | c.637C>G (p.Gln213Glu) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35849625G= | CA2333850985 | NPHS1 | c.637C= (p.Gln213=) | |
| 19 | g.35849625G>T | CA405408444 | NPHS1 | c.637C>A (p.Gln213Lys) | |
| 19 | g.35849626C>A | CA405408447 | NPHS1 | c.636G>T (p.Arg212Ser) | |
| 19 | g.35849626C>G | CA405408451 | NPHS1 | c.636G>C (p.Arg212Ser) | |
| 19 | g.35849626C>T | CA507085504 | NPHS1 | c.636G>A (p.Arg212=) | gnomAD v4 |
| 19 | g.35849627C>A | CA405408453 | NPHS1 | c.635G>T (p.Arg212Met) | |
| 19 | g.35849627C>G | CA405408458 | NPHS1 | c.635G>C (p.Arg212Thr) | |
| 19 | g.35849627C>T | CA405408463 | NPHS1 | c.635G>A (p.Arg212Lys) | gnomAD v4 |
| 19 | g.35849628T>A | CA405408467 | NPHS1 | c.634A>T (p.Arg212Trp) | |
| 19 | g.35849628T>C | CA405408471 | NPHS1 | c.634A>G (p.Arg212Gly) | |
| 19 | g.35849628T>G | CA507085512 | NPHS1 | c.634A>C (p.Arg212=) | |
| 19 | g.35849629A>C | CA405408472 | NPHS1 | c.633T>G (p.Asn211Lys) | |
| 19 | g.35849629A>G | CA507085514 | NPHS1 | c.633T>C (p.Asn211=) | ClinVar gnomAD v4 |
| 19 | g.35849629A>T | CA405408473 | NPHS1 | c.633T>A (p.Asn211Lys) | |
| 19 | g.35849630T>A | CA405408477 | NPHS1 | c.632A>T (p.Asn211Ile) | |
| 19 | g.35849630T>C | CA405408475 | NPHS1 | c.632A>G (p.Asn211Ser) | dbSNP gnomAD v4 |
| 19 | g.35849630T>G | CA405408474 | NPHS1 | c.632A>C (p.Asn211Thr) | |
| 19 | g.35849630T= | CA2333850986 | NPHS1 | c.632A= (p.Asn211=) | |
| 19 | g.35849631T>A | CA405408486 | NPHS1 | c.631A>T (p.Asn211Tyr) | |
| 19 | g.35849631T>C | CA405408480 | NPHS1 | c.631A>G (p.Asn211Asp) | |
| 19 | g.35849631T>G | CA405408484 | NPHS1 | c.631A>C (p.Asn211His) | |
| 19 | g.35849632A= | CA2333850987 | NPHS1 | c.630T= (p.Asp210=) | |
| 19 | g.35849632A>C | CA405408490 | NPHS1 | c.630T>G (p.Asp210Glu) | |
| 19 | g.35849632A>G | CA507085536 | NPHS1 | c.630T>C (p.Asp210=) | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.35849632A>T | CA405408492 | NPHS1 | c.630T>A (p.Asp210Glu) | |
| 19 | g.35849633T>A | CA405408496 | NPHS1 | c.629A>T (p.Asp210Val) | |
| 19 | g.35849633T>C | CA405408498 | NPHS1 | c.629A>G (p.Asp210Gly) | |
| 19 | g.35849633T>G | CA405408503 | NPHS1 | c.629A>C (p.Asp210Ala) |