Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.179575644C>A | CA343552902 | NPHS2 | c.221G>T (p.Gly74Val) | gnomAD v4 |
1 | g.179575644C= | CA1142274367 | NPHS2 | c.221G= (p.Gly74=) | |
1 | g.179575644C>G | CA343552906 | NPHS2 | c.221G>C (p.Gly74Ala) | |
1 | g.179575644C>T | CA1267293 | NPHS2 | c.221G>A (p.Gly74Asp) | dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.179575645C>A | CA343552910 | NPHS2 | c.220G>T (p.Gly74Cys) | |
1 | g.179575645C= | CA1143424947 | NPHS2 | c.220G= (p.Gly74=) | |
1 | g.179575645C>G | CA343552914 | NPHS2 | c.220G>C (p.Gly74Arg) | dbSNP |
1 | g.179575645C>T | CA1267294 | NPHS2 | c.220G>A (p.Gly74Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
1 | g.179575646G>A | CA1267295 | NPHS2 | c.219C>T (p.Ser73=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575646G>C | CA421996005 | NPHS2 | c.219C>G (p.Ser73=) | |
1 | g.179575646G= | CA1210326654 | NPHS2 | c.219C= (p.Ser73=) | |
1 | g.179575646G>T | CA421996002 | NPHS2 | c.219C>A (p.Ser73=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575647G>A | CA343552918 | NPHS2 | c.218C>T (p.Ser73Phe) | gnomAD v4 |
1 | g.179575647G>C | CA343552924 | NPHS2 | c.218C>G (p.Ser73Cys) | gnomAD v4 |
1 | g.179575647G>T | CA343552920 | NPHS2 | c.218C>A (p.Ser73Tyr) | gnomAD v4 |
1 | g.179575648A>C | CA343552929 | NPHS2 | c.217T>G (p.Ser73Ala) | |
1 | g.179575648A>G | CA343552934 | NPHS2 | c.217T>C (p.Ser73Pro) | |
1 | g.179575648A>T | CA343552931 | NPHS2 | c.217T>A (p.Ser73Thr) | |
1 | g.179575649G>A | CA421996037 | NPHS2 | c.216C>T (p.Gly72=) | dbSNP |
1 | g.179575649G>C | CA421996039 | NPHS2 | c.216C>G (p.Gly72=) | |
1 | g.179575649G= | CA1210326655 | NPHS2 | c.216C= (p.Gly72=) | |
1 | g.179575649G>T | CA421996042 | NPHS2 | c.216C>A (p.Gly72=) | gnomAD v4 |
1 | g.179575650C>A | CA343552938 | NPHS2 | c.215G>T (p.Gly72Val) | gnomAD v4 |
1 | g.179575650C>G | CA343552945 | NPHS2 | c.215G>C (p.Gly72Ala) | |
1 | g.179575650C>T | CA343552942 | NPHS2 | c.215G>A (p.Gly72Asp) | gnomAD v4 |
1 | g.179575651C>A | CA343552947 | NPHS2 | c.214G>T (p.Gly72Cys) | gnomAD v4 |
1 | g.179575651C>G | CA343552948 | NPHS2 | c.214G>C (p.Gly72Arg) | |
1 | g.179575651C>T | CA343552949 | NPHS2 | c.214G>A (p.Gly72Ser) | |
1 | g.179575652T>A | CA421996063 | NPHS2 | c.213A>T (p.Arg71=) | |
1 | g.179575652T>C | CA421996068 | NPHS2 | c.213A>G (p.Arg71=) | gnomAD v4 |
1 | g.179575652T>G | CA421996071 | NPHS2 | c.213A>C (p.Arg71=) | |
1 | g.179575653C>A | CA343552950 | NPHS2 | c.212G>T (p.Arg71Leu) | |
1 | g.179575653C= | CA1210326656 | NPHS2 | c.212G= (p.Arg71=) | |
1 | g.179575653C>G | CA343552951 | NPHS2 | c.212G>C (p.Arg71Pro) | |
1 | g.179575653C>T | CA343552952 | NPHS2 | c.212G>A (p.Arg71Gln) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575654G>A | CA343552954 | NPHS2 | c.211C>T (p.Arg71Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575654G>C | CA343552956 | NPHS2 | c.211C>G (p.Arg71Gly) | |
1 | g.179575654G= | CA1210326657 | NPHS2 | c.211C= (p.Arg71=) | |
1 | g.179575654G>T | CA421996114 | NPHS2 | c.211C>A (p.Arg71=) | gnomAD v4 |
1 | g.179575654_179575655dup | CA2746821922 | NPHS2 | c.210_211dup (p.Arg71ProfsTer29) c.210_211dup (p.Arg71ProfsTer?) | |
1 | g.179575655G>A | CA421996120 | NPHS2 | c.210C>T (p.Val70=) | |
1 | g.179575655G>C | CA421996123 | NPHS2 | c.210C>G (p.Val70=) | |
1 | g.179575655G>T | CA421996126 | NPHS2 | c.210C>A (p.Val70=) | gnomAD v4 |
1 | g.179575656A>C | CA343552957 | NPHS2 | c.209T>G (p.Val70Gly) | |
1 | g.179575656A>G | CA343552959 | NPHS2 | c.209T>C (p.Val70Ala) | gnomAD v4 |
1 | g.179575656A>T | CA343552961 | NPHS2 | c.209T>A (p.Val70Asp) | |
1 | g.179575657C>A | CA343552979 | NPHS2 | c.208G>T (p.Val70Phe) | |
1 | g.179575657C= | CA1210326658 | NPHS2 | c.208G= (p.Val70=) | |
1 | g.179575657C>G | CA343552967 | NPHS2 | c.208G>C (p.Val70Leu) | |
1 | g.179575657C>T | CA1267296 | NPHS2 | c.208G>A (p.Val70Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179575658C>A | CA343552984 | NPHS2 | c.207G>T (p.Glu69Asp) | |
1 | g.179575658C= | CA1210326659 | NPHS2 | c.207G= (p.Glu69=) | |
1 | g.179575658C>G | CA343552987 | NPHS2 | c.207G>C (p.Glu69Asp) | gnomAD v4 |
1 | g.179575658C>T | CA421996161 | NPHS2 | c.207G>A (p.Glu69=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575659T>A | CA1267297 | NPHS2 | c.206A>T (p.Glu69Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179575659T>C | CA343552994 | NPHS2 | c.206A>G (p.Glu69Gly) | gnomAD v4 COSMIC |
1 | g.179575659T>G | CA343552998 | NPHS2 | c.206A>C (p.Glu69Ala) | |
1 | g.179575659T= | CA1210326660 | NPHS2 | c.206A= (p.Glu69=) | |
1 | g.179575660C>A | CA343553001 | NPHS2 | c.205G>T (p.Glu69Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575660C= | CA1210326661 | NPHS2 | c.205G= (p.Glu69=) | |
1 | g.179575660C>G | CA343553003 | NPHS2 | c.205G>C (p.Glu69Gln) | |
1 | g.179575660C>T | CA343553005 | NPHS2 | c.205G>A (p.Glu69Lys) | gnomAD v4 |
1 | g.179575661A>C | CA343553008 | NPHS2 | c.204T>G (p.Asp68Glu) | |
1 | g.179575661A>G | CA421996189 | NPHS2 | c.204T>C (p.Asp68=) | |
1 | g.179575661A>T | CA343553011 | NPHS2 | c.204T>A (p.Asp68Glu) | |
1 | g.179575662T>A | CA343553024 | NPHS2 | c.203A>T (p.Asp68Val) | |
1 | g.179575662T>C | CA343553020 | NPHS2 | c.203A>G (p.Asp68Gly) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575662T>G | CA343553014 | NPHS2 | c.203A>C (p.Asp68Ala) | |
1 | g.179575662T= | CA1210326662 | NPHS2 | c.203A= (p.Asp68=) | |
1 | g.179575663C>A | CA343553028 | NPHS2 | c.202G>T (p.Asp68Tyr) | |
1 | g.179575663C>G | CA343553030 | NPHS2 | c.202G>C (p.Asp68His) | |
1 | g.179575663C>T | CA343553033 | NPHS2 | c.202G>A (p.Asp68Asn) | |
1 | g.179575664C>A | CA421996214 | NPHS2 | c.201G>T (p.Val67=) | gnomAD v4 |
1 | g.179575664C>G | CA421996217 | NPHS2 | c.201G>C (p.Val67=) | |
1 | g.179575664C>T | CA421996221 | NPHS2 | c.201G>A (p.Val67=) | |
1 | g.179575665A>C | CA343553035 | NPHS2 | c.200T>G (p.Val67Gly) | |
1 | g.179575665A>G | CA343553040 | NPHS2 | c.200T>C (p.Val67Ala) | |
1 | g.179575665A>T | CA343553045 | NPHS2 | c.200T>A (p.Val67Glu) | |
1 | g.179575666C>A | CA343553048 | NPHS2 | c.199G>T (p.Val67Leu) | |
1 | g.179575666C= | CA1210326663 | NPHS2 | c.199G= (p.Val67=) | |
1 | g.179575666C>G | CA343553051 | NPHS2 | c.199G>C (p.Val67Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575666C>T | CA343553055 | NPHS2 | c.199G>A (p.Val67Met) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575667G>A | CA421996232 | NPHS2 | c.198C>T (p.Asp66=) | gnomAD v4 |
1 | g.179575667G>C | CA343553062 | NPHS2 | c.198C>G (p.Asp66Glu) | |
1 | g.179575667G= | CA1210326664 | NPHS2 | c.198C= (p.Asp66=) | |
1 | g.179575667G>T | CA343553066 | NPHS2 | c.198C>A (p.Asp66Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575668T>A | CA343553081 | NPHS2 | c.197A>T (p.Asp66Val) | |
1 | g.179575668T>C | CA343553078 | NPHS2 | c.197A>G (p.Asp66Gly) | gnomAD v4 |
1 | g.179575668T>G | CA343553075 | NPHS2 | c.197A>C (p.Asp66Ala) | |
1 | g.179575668_179575671del | CA913071834 | NPHS2 | c.194_197del (p.Val65AlafsTer?) | |
1 | g.179575668_179575671delinsTCCA | CA1210326665 | NPHS2 | c.194_197delinsTGGA (p.Val65=) | |
1 | g.179575669C>A | CA343553082 | NPHS2 | c.196G>T (p.Asp66Tyr) | gnomAD v4 |
1 | g.179575669C= | CA1210326666 | NPHS2 | c.196G= (p.Asp66=) | |
1 | g.179575669C>G | CA343553085 | NPHS2 | c.196G>C (p.Asp66His) | |
1 | g.179575669C>T | CA1267298 | NPHS2 | c.196G>A (p.Asp66Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179575670del | CA2649317005 | NPHS2 | c.196del (p.Asp66ThrfsTer?) | gnomAD v4 |
1 | g.179575674_179575676del | CA658822856 | NPHS2 | c.194_196del (p.Val65del) | ClinVar dbSNP |
1 | g.179575670C>A | CA421996255 | NPHS2 | c.195G>T (p.Val65=) | |
1 | g.179575670C>G | CA421996256 | NPHS2 | c.195G>C (p.Val65=) | |
1 | g.179575670C>T | CA421996257 | NPHS2 | c.195G>A (p.Val65=) | |
1 | g.179575671A>C | CA343553088 | NPHS2 | c.194T>G (p.Val65Gly) | |
1 | g.179575671A>G | CA343553092 | NPHS2 | c.194T>C (p.Val65Ala) | gnomAD v4 |
1 | g.179575671A>T | CA343553095 | NPHS2 | c.194T>A (p.Val65Glu) | |
1 | g.179575672C>A | CA343553106 | NPHS2 | c.193G>T (p.Val65Leu) | |
1 | g.179575672C= | CA1210326667 | NPHS2 | c.193G= (p.Val65=) | |
1 | g.179575672C>G | CA343553109 | NPHS2 | c.193G>C (p.Val65Leu) | |
1 | g.179575672C>T | CA343553112 | NPHS2 | c.193G>A (p.Val65Met) | dbSNP gnomAD v4 |
1 | g.179575673_179575674insCCCCCCCAAACACACCC | CA2746821924 | NPHS2 | c.193_194insGTGTGTTTGGGGGGGGG (p.Val65GlyfsTer?) | |
1 | g.179575673C>A | CA421996275 | NPHS2 | c.192G>T (p.Val64=) | |
1 | g.179575673C>G | CA421996283 | NPHS2 | c.192G>C (p.Val64=) | |
1 | g.179575673C>T | CA421996278 | NPHS2 | c.192G>A (p.Val64=) | |
1 | g.179575674_179575675del | CA2582342427 | NPHS2 | c.191_192del (p.Val64GlyfsTer5) | ClinVar |
1 | g.179575674A>C | CA343553122 | NPHS2 | c.191T>G (p.Val64Gly) | |
1 | g.179575674A>G | CA343553124 | NPHS2 | c.191T>C (p.Val64Ala) | |
1 | g.179575674A>T | CA343553137 | NPHS2 | c.191T>A (p.Val64Glu) | |
1 | g.179575675C>A | CA343553146 | NPHS2 | c.190G>T (p.Val64Leu) | |
1 | g.179575675C= | CA1210326668 | NPHS2 | c.190G= (p.Val64=) | |
1 | g.179575675C>G | CA343553158 | NPHS2 | c.190G>C (p.Val64Leu) | |
1 | g.179575675C>T | CA343553142 | NPHS2 | c.190G>A (p.Val64Met) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575676C>A | CA421996309 | NPHS2 | c.189G>T (p.Thr63=) | gnomAD v4 |
1 | g.179575676C= | CA1210326669 | NPHS2 | c.189G= (p.Thr63=) | |
1 | g.179575676C>G | CA421996311 | NPHS2 | c.189G>C (p.Thr63=) | |
1 | g.179575676C>T | CA1267299 | NPHS2 | c.189G>A (p.Thr63=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575677G>A | CA343553167 | NPHS2 | c.188C>T (p.Thr63Met) | gnomAD v4 |
1 | g.179575677G>C | CA343553169 | NPHS2 | c.188C>G (p.Thr63Arg) | |
1 | g.179575677G>T | CA343553172 | NPHS2 | c.188C>A (p.Thr63Lys) | gnomAD v4 |
1 | g.179575678T>A | CA343553177 | NPHS2 | c.187A>T (p.Thr63Ser) | |
1 | g.179575678T>C | CA343553180 | NPHS2 | c.187A>G (p.Thr63Ala) | |
1 | g.179575678T>G | CA343553182 | NPHS2 | c.187A>C (p.Thr63Pro) | |
1 | g.179575679G>A | CA421996334 | NPHS2 | c.186C>T (p.Ala62=) | |
1 | g.179575679G>C | CA421996338 | NPHS2 | c.186C>G (p.Ala62=) | gnomAD v4 |
1 | g.179575679G>T | CA421996340 | NPHS2 | c.186C>A (p.Ala62=) | |
1 | g.179575680dup | CA2841610911 | NPHS2 | c.186dup (p.Thr63HisfsTer7) | |
1 | g.179575680G>A | CA343553186 | NPHS2 | c.185C>T (p.Ala62Val) | |
1 | g.179575680G>C | CA343553188 | NPHS2 | c.185C>G (p.Ala62Gly) | |
1 | g.179575680G>T | CA343553192 | NPHS2 | c.185C>A (p.Ala62Asp) | gnomAD v4 |
1 | g.179575681C>A | CA343553194 | NPHS2 | c.184G>T (p.Ala62Ser) | dbSNP |
1 | g.179575681C= | CA1210326670 | NPHS2 | c.184G= (p.Ala62=) | |
1 | g.179575681C>G | CA343553196 | NPHS2 | c.184G>C (p.Ala62Pro) | |
1 | g.179575681C>T | CA343553199 | NPHS2 | c.184G>A (p.Ala62Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575682G>A | CA421996377 | NPHS2 | c.183C>T (p.Ala61=) | |
1 | g.179575682G>C | CA421996392 | NPHS2 | c.183C>G (p.Ala61=) | |
1 | g.179575682G>T | CA421996401 | NPHS2 | c.183C>A (p.Ala61=) | gnomAD v4 |
1 | g.179575683G>A | CA1267300 | NPHS2 | c.182C>T (p.Ala61Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575683G>C | CA343553200 | NPHS2 | c.182C>G (p.Ala61Gly) | |
1 | g.179575683G= | CA1143458114 | NPHS2 | c.182C= (p.Ala61=) | |
1 | g.179575683G>T | CA343553201 | NPHS2 | c.182C>A (p.Ala61Asp) | gnomAD v4 |
1 | g.179575684C>A | CA343553203 | NPHS2 | c.181G>T (p.Ala61Ser) | |
1 | g.179575684C= | CA1210326671 | NPHS2 | c.181G= (p.Ala61=) | |
1 | g.179575684C>G | CA343553205 | NPHS2 | c.181G>C (p.Ala61Pro) | |
1 | g.179575684C>T | CA1267301 | NPHS2 | c.181G>A (p.Ala61Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575685G>A | CA421996431 | NPHS2 | c.180C>T (p.Pro60=) | gnomAD v4 |
1 | g.179575685G>C | CA421996434 | NPHS2 | c.180C>G (p.Pro60=) | |
1 | g.179575685G>T | CA421996438 | NPHS2 | c.180C>A (p.Pro60=) | |
1 | g.179575686G>A | CA343553213 | NPHS2 | c.179C>T (p.Pro60Leu) | |
1 | g.179575686G>C | CA343553214 | NPHS2 | c.179C>G (p.Pro60Arg) | |
1 | g.179575686G>T | CA343553218 | NPHS2 | c.179C>A (p.Pro60His) | gnomAD v4 |
1 | g.179575687G>A | CA343553220 | NPHS2 | c.178C>T (p.Pro60Ser) | |
1 | g.179575687G>C | CA343553221 | NPHS2 | c.178C>G (p.Pro60Ala) | |
1 | g.179575687G>T | CA343553222 | NPHS2 | c.178C>A (p.Pro60Thr) | gnomAD v4 |
1 | g.179575688C>A | CA421996480 | NPHS2 | c.177G>T (p.Ala59=) | ClinVar gnomAD v4 |
1 | g.179575688C= | CA1210326672 | NPHS2 | c.177G= (p.Ala59=) | |
1 | g.179575688C>G | CA421996483 | NPHS2 | c.177G>C (p.Ala59=) | |
1 | g.179575688C>T | CA421996486 | NPHS2 | c.177G>A (p.Ala59=) | dbSNP gnomAD v4 |
1 | g.179575689G>A | CA1267302 | NPHS2 | c.176C>T (p.Ala59Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575689G>C | CA343553226 | NPHS2 | c.176C>G (p.Ala59Gly) | |
1 | g.179575689G= | CA1143461553 | NPHS2 | c.176C= (p.Ala59=) | |
1 | g.179575689G>T | CA1267303 | NPHS2 | c.176C>A (p.Ala59Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575690C>A | CA343553235 | NPHS2 | c.175G>T (p.Ala59Ser) | gnomAD v4 |
1 | g.179575690C= | CA1210326673 | NPHS2 | c.175G= (p.Ala59=) | |
1 | g.179575690C>G | CA1267304 | NPHS2 | c.175G>C (p.Ala59Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179575690C>T | CA343553233 | NPHS2 | c.175G>A (p.Ala59Thr) | |
1 | g.179575691T>A | CA421996523 | NPHS2 | c.174A>T (p.Arg58=) | |
1 | g.179575691T>C | CA421996526 | NPHS2 | c.174A>G (p.Arg58=) | gnomAD v4 |
1 | g.179575691T>G | CA421996529 | NPHS2 | c.174A>C (p.Arg58=) | |
1 | g.179575692C>A | CA343553241 | NPHS2 | c.173G>T (p.Arg58Leu) | |
1 | g.179575692C>G | CA343553245 | NPHS2 | c.173G>C (p.Arg58Pro) | |
1 | g.179575692C>T | CA343553256 | NPHS2 | c.173G>A (p.Arg58Gln) | gnomAD v4 |
1 | g.179575693G>A | CA343553260 | NPHS2 | c.172C>T (p.Arg58Ter) | gnomAD v4 |
1 | g.179575693G>C | CA343553262 | NPHS2 | c.172C>G (p.Arg58Gly) | gnomAD v4 |
1 | g.179575693G= | CA1210326674 | NPHS2 | c.172C= (p.Arg58=) | |
1 | g.179575693G>T | CA1267305 | NPHS2 | c.172C>A (p.Arg58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179575696dup | CA2841610912 | NPHS2 | c.172dup (p.Arg58ProfsTer12) | |
1 | g.179575696del | CA2649317006 | NPHS2 | c.172del (p.Arg58GlufsTer?) | gnomAD v4 |
1 | g.179575694G>A | CA421996550 | NPHS2 | c.171C>T (p.Pro57=) | gnomAD v4 |
1 | g.179575694G>C | CA421996553 | NPHS2 | c.171C>G (p.Pro57=) | |
1 | g.179575694G>T | CA421996558 | NPHS2 | c.171C>A (p.Pro57=) | |
1 | g.179575695G>A | CA343553271 | NPHS2 | c.170C>T (p.Pro57Leu) | |
1 | g.179575695G>C | CA343553266 | NPHS2 | c.170C>G (p.Pro57Arg) | |
1 | g.179575695G>T | CA343553268 | NPHS2 | c.170C>A (p.Pro57His) | gnomAD v4 |
1 | g.179575696G>A | CA343553273 | NPHS2 | c.169C>T (p.Pro57Ser) | gnomAD v4 |
1 | g.179575696G>C | CA343553277 | NPHS2 | c.169C>G (p.Pro57Ala) | |
1 | g.179575696G= | CA1210326675 | NPHS2 | c.169C= (p.Pro57=) | |
1 | g.179575696G>T | CA343553287 | NPHS2 | c.169C>A (p.Pro57Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575697C>A | CA343553290 | NPHS2 | c.168G>T (p.Glu56Asp) | gnomAD v4 |
1 | g.179575697C= | CA1210326676 | NPHS2 | c.168G= (p.Glu56=) | |
1 | g.179575697C>G | CA343553293 | NPHS2 | c.168G>C (p.Glu56Asp) | |
1 | g.179575697C>T | CA421996590 | NPHS2 | c.168G>A (p.Glu56=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575697_179575698delinsCT | CA1210326677 | NPHS2 | c.167_168delinsAG (p.Glu56=) | |
1 | g.179575698del | CA913189510 | NPHS2 | c.167del (p.Glu56GlyfsTer?) | ClinVar dbSNP |
1 | g.179575698T>A | CA343553297 | NPHS2 | c.167A>T (p.Glu56Val) | |
1 | g.179575698T>C | CA1267306 | NPHS2 | c.167A>G (p.Glu56Gly) | ClinVar dbSNP ExAC gnomAD v2 |
1 | g.179575698T>G | CA343553298 | NPHS2 | c.167A>C (p.Glu56Ala) | |
1 | g.179575698T= | CA1149136072 | NPHS2 | c.167A= (p.Glu56=) | |
1 | g.179575698dup | CA913071835 | NPHS2 | c.167dup (p.Pro57AlafsTer13) | |
1 | g.179575699C>A | CA343553305 | NPHS2 | c.166G>T (p.Glu56Ter) | ClinVar dbSNP gnomAD v4 |
1 | g.179575699C= | CA1210326678 | NPHS2 | c.166G= (p.Glu56=) | |
1 | g.179575699C>G | CA343553308 | NPHS2 | c.166G>C (p.Glu56Gln) | |
1 | g.179575699C>T | CA343553310 | NPHS2 | c.166G>A (p.Glu56Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.179575703dup | CA658822857 | NPHS2 | c.166dup (p.Glu56GlyfsTer14) | ClinVar dbSNP |
1 | g.179575703del | CA2649317007 | NPHS2 | c.166del (p.Glu56SerfsTer?) | gnomAD v4 |
1 | g.179575700C>A | CA421996626 | NPHS2 | c.165G>T (p.Gly55=) | |
1 | g.179575700C>G | CA421996627 | NPHS2 | c.165G>C (p.Gly55=) | |
1 | g.179575700C>T | CA421996628 | NPHS2 | c.165G>A (p.Gly55=) | gnomAD v4 |
1 | g.179575701C>A | CA343553312 | NPHS2 | c.164G>T (p.Gly55Val) | |
1 | g.179575701C= | CA1210326679 | NPHS2 | c.164G= (p.Gly55=) | |
1 | g.179575701C>G | CA343553315 | NPHS2 | c.164G>C (p.Gly55Ala) | dbSNP |
1 | g.179575701C>T | CA343553322 | NPHS2 | c.164G>A (p.Gly55Glu) | gnomAD v4 |
1 | g.179575702C>A | CA343553330 | NPHS2 | c.163G>T (p.Gly55Trp) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575702C= | CA1210326680 | NPHS2 | c.163G= (p.Gly55=) | |
1 | g.179575702C>G | CA343553347 | NPHS2 | c.163G>C (p.Gly55Arg) | |
1 | g.179575702C>T | CA343553351 | NPHS2 | c.163G>A (p.Gly55Arg) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575703C>A | CA421996648 | NPHS2 | c.162G>T (p.Pro54=) | dbSNP gnomAD v4 |
1 | g.179575703C= | CA1210326681 | NPHS2 | c.162G= (p.Pro54=) | |
1 | g.179575703C>G | CA421996655 | NPHS2 | c.162G>C (p.Pro54=) | |
1 | g.179575703C>T | CA421996645 | NPHS2 | c.162G>A (p.Pro54=) | gnomAD v4 |
1 | g.179575704G>A | CA343553354 | NPHS2 | c.161C>T (p.Pro54Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575704G>C | CA343553355 | NPHS2 | c.161C>G (p.Pro54Arg) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575704G= | CA1210326682 | NPHS2 | c.161C= (p.Pro54=) | |
1 | g.179575704G>T | CA343553356 | NPHS2 | c.161C>A (p.Pro54Gln) | gnomAD v4 |
1 | g.179575705G>A | CA343553362 | NPHS2 | c.160C>T (p.Pro54Ser) | gnomAD v4 |
1 | g.179575705G>C | CA343553359 | NPHS2 | c.160C>G (p.Pro54Ala) | |
1 | g.179575705G>T | CA343553357 | NPHS2 | c.160C>A (p.Pro54Thr) | gnomAD v4 |
1 | g.179575706G>A | CA421996681 | NPHS2 | c.159C>T (p.Thr53=) | gnomAD v4 |
1 | g.179575706G>C | CA421996684 | NPHS2 | c.159C>G (p.Thr53=) | ClinVar dbSNP gnomAD v4 |
1 | g.179575706G= | CA1210326683 | NPHS2 | c.159C= (p.Thr53=) | |
1 | g.179575706G>T | CA421996689 | NPHS2 | c.159C>A (p.Thr53=) | gnomAD v4 |
1 | g.179575707G>A | CA343553368 | NPHS2 | c.158C>T (p.Thr53Ile) | |
1 | g.179575707G>C | CA343553376 | NPHS2 | c.158C>G (p.Thr53Ser) | |
1 | g.179575707G>T | CA343553372 | NPHS2 | c.158C>A (p.Thr53Asn) | gnomAD v4 |
1 | g.179575708T>A | CA343553380 | NPHS2 | c.157A>T (p.Thr53Ser) | |
1 | g.179575708T>C | CA343553394 | NPHS2 | c.157A>G (p.Thr53Ala) | gnomAD v4 |
1 | g.179575708T>G | CA33653862 | NPHS2 | c.157A>C (p.Thr53Pro) | ClinVar dbSNP gnomAD v4 |
1 | g.179575708T= | CA1210326684 | NPHS2 | c.157A= (p.Thr53=) | |
1 | g.179575708_179575709delinsTC | CA1210326685 | NPHS2 | c.156_157delinsGA (p.Gly52=) | |
1 | g.179575709C>A | CA421996732 | NPHS2 | c.156G>T (p.Gly52=) | |
1 | g.179575709C= | CA1210326686 | NPHS2 | c.156G= (p.Gly52=) | |
1 | g.179575709C>G | CA421996722 | NPHS2 | c.156G>C (p.Gly52=) | |
1 | g.179575709C>T | CA421996719 | NPHS2 | c.156G>A (p.Gly52=) | ClinVar dbSNP gnomAD v4 |
1 | g.179575712dup | CA2649317008 | NPHS2 | c.156dup (p.Thr53AspfsTer17) | gnomAD v4 |
1 | g.179575712del | CA658683169 | NPHS2 | c.156del (p.Thr53ProfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575711_179575819del | CA2580061520 | NPHS2 | c.48_156del (p.Gly17ProfsTer?) | ClinVar |
1 | g.179575710C>A | CA343553398 | NPHS2 | c.155G>T (p.Gly52Val) | |
1 | g.179575710C>G | CA343553405 | NPHS2 | c.155G>C (p.Gly52Ala) | |
1 | g.179575710C>T | CA343553407 | NPHS2 | c.155G>A (p.Gly52Glu) | gnomAD v4 |
1 | g.179575711C>A | CA343553411 | NPHS2 | c.154G>T (p.Gly52Trp) | gnomAD v4 |
1 | g.179575711C= | CA1210326687 | NPHS2 | c.154G= (p.Gly52=) | |
1 | g.179575711C>G | CA343553413 | NPHS2 | c.154G>C (p.Gly52Arg) | |
1 | g.179575711C>T | CA343553417 | NPHS2 | c.154G>A (p.Gly52Arg) | dbSNP |
1 | g.179575712C>A | CA421996756 | NPHS2 | c.153G>T (p.Ala51=) | gnomAD v4 |
1 | g.179575712C>G | CA421996759 | NPHS2 | c.153G>C (p.Ala51=) | |
1 | g.179575712C>T | CA421996761 | NPHS2 | c.153G>A (p.Ala51=) | dbSNP |
1 | g.179575713G>A | CA33653875 | NPHS2 | c.152C>T (p.Ala51Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575713G>C | CA343553422 | NPHS2 | c.152C>G (p.Ala51Gly) | |
1 | g.179575713G= | CA1210326688 | NPHS2 | c.152C= (p.Ala51=) | |
1 | g.179575713G>T | CA343553427 | NPHS2 | c.152C>A (p.Ala51Glu) | gnomAD v4 |
1 | g.179575713_179575714delinsAG | CA2580061521 | NPHS2 | c.151_152delinsCT (p.Ala51Leu) | ClinVar |
1 | g.179575714C>A | CA343553434 | NPHS2 | c.151G>T (p.Ala51Ser) | dbSNP |
1 | g.179575714C= | CA1210326689 | NPHS2 | c.151G= (p.Ala51=) | |
1 | g.179575714C>G | CA33653880 | NPHS2 | c.151G>C (p.Ala51Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575714C>T | CA343553440 | NPHS2 | c.151G>A (p.Ala51Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575715C>A | CA421996786 | NPHS2 | c.150G>T (p.Arg50=) | COSMIC |
1 | g.179575715C= | CA1210326690 | NPHS2 | c.150G= (p.Arg50=) | |
1 | g.179575715C>G | CA421996791 | NPHS2 | c.150G>C (p.Arg50=) | |
1 | g.179575715C>T | CA421996792 | NPHS2 | c.150G>A (p.Arg50=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575716C>A | CA343553449 | NPHS2 | c.149G>T (p.Arg50Leu) | gnomAD v4 |
1 | g.179575716C= | CA1210326691 | NPHS2 | c.149G= (p.Arg50=) | |
1 | g.179575716C>G | CA343553452 | NPHS2 | c.149G>C (p.Arg50Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575716C>T | CA343553450 | NPHS2 | c.149G>A (p.Arg50Gln) | gnomAD v4 |
1 | g.179575717del | CA2649317009 | NPHS2 | c.148del (p.Arg50GlyfsTer?) | gnomAD v4 |
1 | g.179575717G>A | CA10608825 | NPHS2 | c.148C>T (p.Arg50Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575717G>C | CA343553458 | NPHS2 | c.148C>G (p.Arg50Gly) | dbSNP gnomAD v4 |
1 | g.179575717G= | CA1210326692 | NPHS2 | c.148C= (p.Arg50=) | |
1 | g.179575717G>T | CA421996804 | NPHS2 | c.148C>A (p.Arg50=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575718T>A | CA421996809 | NPHS2 | c.147A>T (p.Gly49=) | |
1 | g.179575718T>C | CA421996812 | NPHS2 | c.147A>G (p.Gly49=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575718T>G | CA421996816 | NPHS2 | c.147A>C (p.Gly49=) | |
1 | g.179575718T= | CA1210326693 | NPHS2 | c.147A= (p.Gly49=) | |
1 | g.179575719C>A | CA343553463 | NPHS2 | c.146G>T (p.Gly49Val) | |
1 | g.179575719C= | CA1210326694 | NPHS2 | c.146G= (p.Gly49=) | |
1 | g.179575719C>G | CA343553466 | NPHS2 | c.146G>C (p.Gly49Ala) | dbSNP |
1 | g.179575719C>T | CA343553470 | NPHS2 | c.146G>A (p.Gly49Glu) | |
1 | g.179575720C>A | CA343553475 | NPHS2 | c.145G>T (p.Gly49Ter) | gnomAD v4 |
1 | g.179575720C>G | CA343553495 | NPHS2 | c.145G>C (p.Gly49Arg) | gnomAD v4 |
1 | g.179575720C>T | CA343553498 | NPHS2 | c.145G>A (p.Gly49Arg) | |
1 | g.179575721G>A | CA1267307 | NPHS2 | c.144C>T (p.Ser48=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575721G>C | CA421996847 | NPHS2 | c.144C>G (p.Ser48=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575721G= | CA1141195170 | NPHS2 | c.144C= (p.Ser48=) | |
1 | g.179575721G>T | CA421996851 | NPHS2 | c.144C>A (p.Ser48=) | |
1 | g.179575722G>A | CA343553503 | NPHS2 | c.143C>T (p.Ser48Phe) | gnomAD v4 COSMIC |
1 | g.179575722G>C | CA343553501 | NPHS2 | c.143C>G (p.Ser48Cys) | |
1 | g.179575722G= | CA1210326695 | NPHS2 | c.143C= (p.Ser48=) | |
1 | g.179575722G>T | CA10604789 | NPHS2 | c.143C>A (p.Ser48Tyr) | ClinVar dbSNP gnomAD v4 |
1 | g.179575723A>C | CA343553516 | NPHS2 | c.142T>G (p.Ser48Ala) | |
1 | g.179575723A>G | CA343553520 | NPHS2 | c.142T>C (p.Ser48Pro) | gnomAD v4 |
1 | g.179575723A>T | CA343553522 | NPHS2 | c.142T>A (p.Ser48Thr) | |
1 | g.179575723_179575727dup | CA16040671 | NPHS2 | c.138_142dup (p.Ser48TrpfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575724G>A | CA421996889 | NPHS2 | c.141C>T (p.Gly47=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.179575724G>C | CA421996884 | NPHS2 | c.141C>G (p.Gly47=) | |
1 | g.179575724G= | CA1210326696 | NPHS2 | c.141C= (p.Gly47=) | |
1 | g.179575724G>T | CA1267308 | NPHS2 | c.141C>A (p.Gly47=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179575725C>A | CA343553538 | NPHS2 | c.140G>T (p.Gly47Val) | |
1 | g.179575725C>G | CA343553541 | NPHS2 | c.140G>C (p.Gly47Ala) | |
1 | g.179575725C>T | CA343553546 | NPHS2 | c.140G>A (p.Gly47Asp) | |
1 | g.179575726C>A | CA343553550 | NPHS2 | c.139G>T (p.Gly47Cys) | |
1 | g.179575726C>G | CA343553558 | NPHS2 | c.139G>C (p.Gly47Arg) | |
1 | g.179575726C>T | CA343553560 | NPHS2 | c.139G>A (p.Gly47Ser) | |
1 | g.179575727C>A | CA421996929 | NPHS2 | c.138G>T (p.Ser46=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
1 | g.179575727C= | CA1210326697 | NPHS2 | c.138G= (p.Ser46=) | |
1 | g.179575727C>G | CA421996925 | NPHS2 | c.138G>C (p.Ser46=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575727C>T | CA33653942 | NPHS2 | c.138G>A (p.Ser46=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575728G>A | CA343553566 | NPHS2 | c.137C>T (p.Ser46Leu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575728G>C | CA343553565 | NPHS2 | c.137C>G (p.Ser46Trp) | dbSNP gnomAD v4 |
1 | g.179575728G= | CA1210326698 | NPHS2 | c.137C= (p.Ser46=) | |
1 | g.179575728G>T | CA343553564 | NPHS2 | c.137C>A (p.Ser46Ter) | dbSNP gnomAD v4 |
1 | g.179575728_179575729del | CA2746821928 | NPHS2 | c.136_137del (p.Ser46GlyfsTer23) | |
1 | g.179575729A>C | CA343553567 | NPHS2 | c.136T>G (p.Ser46Ala) | |
1 | g.179575729A>G | CA343553568 | NPHS2 | c.136T>C (p.Ser46Pro) | |
1 | g.179575729A>T | CA343553570 | NPHS2 | c.136T>A (p.Ser46Thr) | |
1 | g.179575730C>A | CA421996971 | NPHS2 | c.135G>T (p.Pro45=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575730C= | CA1148377789 | NPHS2 | c.135G= (p.Pro45=) | |
1 | g.179575730C>G | CA1267309 | NPHS2 | c.135G>C (p.Pro45=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575730C>T | CA33653944 | NPHS2 | c.135G>A (p.Pro45=) | ClinVar dbSNP gnomAD v4 |
1 | g.179575731_179575744dup | CA2580611213 | NPHS2 | c.122_135dup (p.Ser46LeufsTer?) | ClinVar |
1 | g.179575731G>A | CA343553588 | NPHS2 | c.134C>T (p.Pro45Leu) | gnomAD v4 |
1 | g.179575731G>C | CA1267310 | NPHS2 | c.134C>G (p.Pro45Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575731G= | CA1210326699 | NPHS2 | c.134C= (p.Pro45=) | |
1 | g.179575731G>T | CA343553601 | NPHS2 | c.134C>A (p.Pro45Gln) | gnomAD v4 |
1 | g.179575732del | CA2586967767 | NPHS2 | c.134del (p.Pro45ArgfsTer?) | |
1 | g.179575732G>A | CA343553604 | NPHS2 | c.133C>T (p.Pro45Ser) | gnomAD v4 |
1 | g.179575732G>C | CA343553606 | NPHS2 | c.133C>G (p.Pro45Ala) | |
1 | g.179575732G>T | CA343553610 | NPHS2 | c.133C>A (p.Pro45Thr) | dbSNP gnomAD v4 |
1 | g.179575733C>A | CA343553613 | NPHS2 | c.132G>T (p.Glu44Asp) | gnomAD v4 |
1 | g.179575733C= | CA1210326700 | NPHS2 | c.132G= (p.Glu44=) | |
1 | g.179575733C>G | CA343553615 | NPHS2 | c.132G>C (p.Glu44Asp) | |
1 | g.179575733C>T | CA1267311 | NPHS2 | c.132G>A (p.Glu44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179575733dup | CA2586967768 | NPHS2 | c.132dup (p.Pro45AlafsTer25) | |
1 | g.179575734T>A | CA343553630 | NPHS2 | c.131A>T (p.Glu44Val) | |
1 | g.179575734T>C | CA343553633 | NPHS2 | c.131A>G (p.Glu44Gly) | gnomAD v4 |
1 | g.179575734T>G | CA343553624 | NPHS2 | c.131A>C (p.Glu44Ala) | |
1 | g.179575735C>A | CA343553635 | NPHS2 | c.130G>T (p.Glu44Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575735C= | CA1210326701 | NPHS2 | c.130G= (p.Glu44=) | |
1 | g.179575735C>G | CA343553634 | NPHS2 | c.130G>C (p.Glu44Gln) | |
1 | g.179575735C>T | CA1267312 | NPHS2 | c.130G>A (p.Glu44Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575736G>A | CA421997031 | NPHS2 | c.129C>T (p.Pro43=) | ClinVar dbSNP |
1 | g.179575736G>C | CA421997034 | NPHS2 | c.129C>G (p.Pro43=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575736G= | CA1210326702 | NPHS2 | c.129C= (p.Pro43=) | |
1 | g.179575736G>T | CA421997038 | NPHS2 | c.129C>A (p.Pro43=) | ClinVar dbSNP gnomAD v4 |
1 | g.179575738del | CA2649317010 | NPHS2 | c.129del (p.Glu44SerfsTer?) | gnomAD v4 |
1 | g.179575737G>A | CA343553636 | NPHS2 | c.128C>T (p.Pro43Leu) | |
1 | g.179575737G>C | CA343553637 | NPHS2 | c.128C>G (p.Pro43Arg) | |
1 | g.179575737G>T | CA343553639 | NPHS2 | c.128C>A (p.Pro43His) | gnomAD v4 |
1 | g.179575738G>A | CA343553641 | NPHS2 | c.127C>T (p.Pro43Ser) | gnomAD v4 |
1 | g.179575738G>C | CA33653980 | NPHS2 | c.127C>G (p.Pro43Ala) | dbSNP |
1 | g.179575738G= | CA1145654591 | NPHS2 | c.127C= (p.Pro43=) | |
1 | g.179575738G>T | CA343553646 | NPHS2 | c.127C>A (p.Pro43Thr) | gnomAD v4 |
1 | g.179575739C>A | CA421997051 | NPHS2 | c.126G>T (p.Gly42=) | gnomAD v4 |
1 | g.179575739C= | CA1210326703 | NPHS2 | c.126G= (p.Gly42=) | |
1 | g.179575739C>G | CA421997061 | NPHS2 | c.126G>C (p.Gly42=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575739C>T | CA1267313 | NPHS2 | c.126G>A (p.Gly42=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575739_179575740delinsTT | CA645518943 | NPHS2 | c.125_126delinsAA (p.Gly42Glu) | COSMIC |
1 | g.179575741del | CA2649317011 | NPHS2 | c.126del (p.Glu44SerfsTer?) | gnomAD v4 |
1 | g.179575740_179575762dup | CA2831039334 | NPHS2 | c.104_126dup (p.Pro43AlafsTer?) | |
1 | g.179575740C>A | CA343553657 | NPHS2 | c.125G>T (p.Gly42Val) | gnomAD v4 |
1 | g.179575740C>G | CA343553660 | NPHS2 | c.125G>C (p.Gly42Ala) | |
1 | g.179575740C>T | CA343553664 | NPHS2 | c.125G>A (p.Gly42Glu) | gnomAD v4 |
1 | g.179575741C>A | CA343553677 | NPHS2 | c.124G>T (p.Gly42Trp) | |
1 | g.179575741C= | CA1146717272 | NPHS2 | c.124G= (p.Gly42=) | |
1 | g.179575741C>G | CA343553682 | NPHS2 | c.124G>C (p.Gly42Arg) | |
1 | g.179575741C>T | CA1267314 | NPHS2 | c.124G>A (p.Gly42Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575742A>C | CA421997077 | NPHS2 | c.123T>G (p.Ala41=) | gnomAD v4 |
1 | g.179575742A>G | CA421997082 | NPHS2 | c.123T>C (p.Ala41=) | |
1 | g.179575742A>T | CA421997097 | NPHS2 | c.123T>A (p.Ala41=) | |
1 | g.179575743G>A | CA343553687 | NPHS2 | c.122C>T (p.Ala41Val) | gnomAD v4 |
1 | g.179575743G>C | CA1267315 | NPHS2 | c.122C>G (p.Ala41Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575743G= | CA1210326704 | NPHS2 | c.122C= (p.Ala41=) | |
1 | g.179575743G>T | CA343553702 | NPHS2 | c.122C>A (p.Ala41Asp) | gnomAD v4 |
1 | g.179575744C>A | CA1267316 | NPHS2 | c.121G>T (p.Ala41Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575744C= | CA1210326705 | NPHS2 | c.121G= (p.Ala41=) | |
1 | g.179575744C>G | CA343553721 | NPHS2 | c.121G>C (p.Ala41Pro) | |
1 | g.179575744C>T | CA343553723 | NPHS2 | c.121G>A (p.Ala41Thr) |