Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.179575711_179575819del | CA2580061520 | NPHS2 | c.48_156del (p.Gly17ProfsTer?) | ClinVar |
1 | g.179575751_179575814del | CA2649317013 | NPHS2 | c.56_119del (p.Thr19ArgfsTer?) | gnomAD v4 |
1 | g.179575761_179575829del | CA2649317014 | NPHS2 | c.45_113del (p.Gly16_Arg38del) | gnomAD v4 |
1 | g.179575761_179575830del | CA2649317016 | NPHS2 | c.37_106del (p.Arg13AlafsTer?) | gnomAD v4 |
1 | g.179575765_179575766insTGGCGCCCGCGGCCCCC | CA2649317021 | NPHS2 | c.101_102insGGGCCGCGGGCGCCAGG (p.Gly42AlafsTer?) | gnomAD v4 |
1 | g.179575764_179575765dup | CA2649317020 | NPHS2 | c.100_101dup (p.Gly35GlufsTer?) | gnomAD v4 |
1 | g.179575765C>A | CA343553877 | NPHS2 | c.100G>T (p.Gly34Ter) | gnomAD v4 |
1 | g.179575765C= | CA1210326724 | NPHS2 | c.100G= (p.Gly34=) | |
1 | g.179575765C>G | CA343553879 | NPHS2 | c.100G>C (p.Gly34Arg) | |
1 | g.179575765C>T | CA33654071 | NPHS2 | c.100G>A (p.Gly34Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575766G>A | CA421997370 | NPHS2 | c.99C>T (p.Gly33=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575766G>C | CA421997375 | NPHS2 | c.99C>G (p.Gly33=) | gnomAD v4 |
1 | g.179575766G= | CA1210326725 | NPHS2 | c.99C= (p.Gly33=) | |
1 | g.179575766G>T | CA1267329 | NPHS2 | c.99C>A (p.Gly33=) | dbSNP ExAC gnomAD v4 |
1 | g.179575767C>A | CA343553902 | NPHS2 | c.98G>T (p.Gly33Val) | gnomAD v4 |
1 | g.179575767C= | CA1210326726 | NPHS2 | c.98G= (p.Gly33=) | |
1 | g.179575767C>G | CA343553888 | NPHS2 | c.98G>C (p.Gly33Ala) | gnomAD v4 |
1 | g.179575767C>T | CA343553893 | NPHS2 | c.98G>A (p.Gly33Asp) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575768C>A | CA343553907 | NPHS2 | c.97G>T (p.Gly33Cys) | gnomAD v4 |
1 | g.179575768C= | CA1210326727 | NPHS2 | c.97G= (p.Gly33=) | |
1 | g.179575768C>G | CA343553908 | NPHS2 | c.97G>C (p.Gly33Arg) | gnomAD v4 |
1 | g.179575768C>T | CA343553911 | NPHS2 | c.97G>A (p.Gly33Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575769G>A | CA421997400 | NPHS2 | c.96C>T (p.Ser32=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575769G>C | CA343553913 | NPHS2 | c.96C>G (p.Ser32Arg) | gnomAD v4 |
1 | g.179575769G= | CA1210326728 | NPHS2 | c.96C= (p.Ser32=) | |
1 | g.179575769G>T | CA10605787 | NPHS2 | c.96C>A (p.Ser32Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575769_179575770insTA | CA16040672 | NPHS2 | c.95_96insTA (p.Gly33ThrfsTer?) | ClinVar dbSNP |
1 | g.179575770C>A | CA343553923 | NPHS2 | c.95G>T (p.Ser32Ile) | gnomAD v4 |
1 | g.179575770C= | CA1210326729 | NPHS2 | c.95G= (p.Ser32=) | |
1 | g.179575770C>G | CA343553921 | NPHS2 | c.95G>C (p.Ser32Thr) | |
1 | g.179575770C>T | CA343553918 | NPHS2 | c.95G>A (p.Ser32Asn) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575771T>A | CA343553929 | NPHS2 | c.94A>T (p.Ser32Cys) | |
1 | g.179575771T>C | CA343553932 | NPHS2 | c.94A>G (p.Ser32Gly) | gnomAD v4 |
1 | g.179575771T>G | CA343553936 | NPHS2 | c.94A>C (p.Ser32Arg) | |
1 | g.179575772C>A | CA343553942 | NPHS2 | c.93G>T (p.Arg31Ser) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575772C= | CA1210326730 | NPHS2 | c.93G= (p.Arg31=) | |
1 | g.179575772C>G | CA343553944 | NPHS2 | c.93G>C (p.Arg31Ser) | |
1 | g.179575772C>T | CA421997441 | NPHS2 | c.93G>A (p.Arg31=) | ClinVar dbSNP gnomAD v4 |
1 | g.179575773C>A | CA343553958 | NPHS2 | c.92G>T (p.Arg31Met) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575773C= | CA1210326731 | NPHS2 | c.92G= (p.Arg31=) | |
1 | g.179575773C>G | CA343553964 | NPHS2 | c.92G>C (p.Arg31Thr) | |
1 | g.179575773C>T | CA343553969 | NPHS2 | c.92G>A (p.Arg31Lys) | gnomAD v4 |
1 | g.179575774T>A | CA343553973 | NPHS2 | c.91A>T (p.Arg31Trp) | |
1 | g.179575774T>C | CA343553980 | NPHS2 | c.91A>G (p.Arg31Gly) | gnomAD v4 |
1 | g.179575774T>G | CA421997456 | NPHS2 | c.91A>C (p.Arg31=) | |
1 | g.179575775C>A | CA343553987 | NPHS2 | c.90G>T (p.Glu30Asp) | gnomAD v4 |
1 | g.179575775C= | CA1210326732 | NPHS2 | c.90G= (p.Glu30=) | |
1 | g.179575775C>G | CA343553984 | NPHS2 | c.90G>C (p.Glu30Asp) | dbSNP gnomAD v4 |
1 | g.179575775C>T | CA421997469 | NPHS2 | c.90G>A (p.Glu30=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575776T>A | CA343553994 | NPHS2 | c.89A>T (p.Glu30Val) | gnomAD v4 |