Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
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.179575696del | CA2649317006 | NPHS2 | c.172del (p.Arg58GlufsTer?) | gnomAD v4 |