| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.179575668_179575671del | CA913071834 | NPHS2 | c.194_197del (p.Val65AlafsTer?) | |
| 1 | g.179575668_179575671delinsTCCA | CA1210326665 | NPHS2 | c.194_197delinsTGGA (p.Val65=) | |
| 1 | g.179575670del | CA2649317005 | NPHS2 | c.196del (p.Asp66ThrfsTer?) | gnomAD v4 |
| 1 | g.179575674_179575676del | CA658822856 | NPHS2 | c.194_196del (p.Val65del) | 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.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) | |
| 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=) | 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.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) |