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