| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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) |