| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.179575628C>A | CA343552769 | NPHS2 | c.237G>T (p.Glu79Asp) | gnomAD v4 |
| 1 | g.179575628C>G | CA343552773 | NPHS2 | c.237G>C (p.Glu79Asp) | |
| 1 | g.179575628C>T | CA421995819 | NPHS2 | c.237G>A (p.Glu79=) | |
| 1 | g.179575629T>A | CA343552777 | NPHS2 | c.236A>T (p.Glu79Val) | |
| 1 | g.179575629T>C | CA343552780 | NPHS2 | c.236A>G (p.Glu79Gly) | |
| 1 | g.179575629T>G | CA343552783 | NPHS2 | c.236A>C (p.Glu79Ala) | |
| 1 | g.179575630C>A | CA343552789 | NPHS2 | c.235G>T (p.Glu79Ter) | gnomAD v4 |
| 1 | g.179575630C= | CA1210326644 | NPHS2 | c.235G= (p.Glu79=) | |
| 1 | g.179575630C>G | CA343552792 | NPHS2 | c.235G>C (p.Glu79Gln) | |
| 1 | g.179575630C>T | CA1267290 | NPHS2 | c.235G>A (p.Glu79Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179575631G>A | CA421995835 | NPHS2 | c.234C>T (p.Thr78=) | |
| 1 | g.179575631G>C | CA421995838 | NPHS2 | c.234C>G (p.Thr78=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575631G= | CA1210326645 | NPHS2 | c.234C= (p.Thr78=) | |
| 1 | g.179575631G>T | CA421995840 | NPHS2 | c.234C>A (p.Thr78=) | gnomAD v4 |
| 1 | g.179575632G>A | CA343552801 | NPHS2 | c.233C>T (p.Thr78Ile) | gnomAD v4 |
| 1 | g.179575632G>C | CA343552803 | NPHS2 | c.233C>G (p.Thr78Ser) | gnomAD v4 |
| 1 | g.179575632G>T | CA343552797 | NPHS2 | c.233C>A (p.Thr78Asn) | gnomAD v4 |
| 1 | g.179575633T>A | CA343552806 | NPHS2 | c.232A>T (p.Thr78Ser) | gnomAD v4 |
| 1 | g.179575633T>C | CA343552808 | NPHS2 | c.232A>G (p.Thr78Ala) | gnomAD v4 |
| 1 | g.179575633T>G | CA343552811 | NPHS2 | c.232A>C (p.Thr78Pro) | |
| 1 | g.179575634G>A | CA33653793 | NPHS2 | c.231C>T (p.Gly77=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575634G>C | CA421995865 | NPHS2 | c.231C>G (p.Gly77=) | |
| 1 | g.179575634G= | CA1210326646 | NPHS2 | c.231C= (p.Gly77=) | |
| 1 | g.179575634G>T | CA421995867 | NPHS2 | c.231C>A (p.Gly77=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.179575634_179575635delinsGC | CA1210326647 | NPHS2 | c.230_231delinsGC (p.Gly77=) | |
| 1 | g.179575635C>A | CA343552814 | NPHS2 | c.230G>T (p.Gly77Val) | gnomAD v4 |
| 1 | g.179575635C>G | CA343552815 | NPHS2 | c.230G>C (p.Gly77Ala) | |
| 1 | g.179575635C>T | CA343552816 | NPHS2 | c.230G>A (p.Gly77Asp) | gnomAD v4 |
| 1 | g.179575637del | CA1210326648 | NPHS2 | c.230del (p.Gly77AlafsTer22) c.230del (p.Gly77AlafsTer?) | dbSNP |
| 1 | g.179575635_179575638delinsCCCT | CA1210326649 | NPHS2 | c.227_230delinsAGGG (p.Glu76=) | |
| 1 | g.179575636C>A | CA343552818 | NPHS2 | c.229G>T (p.Gly77Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179575636C= | CA1210326650 | NPHS2 | c.229G= (p.Gly77=) | |
| 1 | g.179575636C>G | CA343552820 | NPHS2 | c.229G>C (p.Gly77Arg) | |
| 1 | g.179575636C>T | CA343552823 | NPHS2 | c.229G>A (p.Gly77Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575640_179575642del | CA1267291 | NPHS2 | c.227_229del (p.Glu76del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179575637C>A | CA343552829 | NPHS2 | c.228G>T (p.Glu76Asp) | gnomAD v4 |
| 1 | g.179575637C= | CA1210326651 | NPHS2 | c.228G= (p.Glu76=) | |
| 1 | g.179575637C>G | CA343552832 | NPHS2 | c.228G>C (p.Glu76Asp) | |
| 1 | g.179575637C>T | CA421995905 | NPHS2 | c.228G>A (p.Glu76=) | dbSNP gnomAD v4 |
| 1 | g.179575638T>A | CA343552838 | NPHS2 | c.227A>T (p.Glu76Val) | |
| 1 | g.179575638T>C | CA343552837 | NPHS2 | c.227A>G (p.Glu76Gly) | gnomAD v4 |
| 1 | g.179575638T>G | CA343552835 | NPHS2 | c.227A>C (p.Glu76Ala) | |
| 1 | g.179575639C>A | CA343552840 | NPHS2 | c.226G>T (p.Glu76Ter) | dbSNP gnomAD v4 |
| 1 | g.179575639C= | CA1210326652 | NPHS2 | c.226G= (p.Glu76=) | |
| 1 | g.179575639C>G | CA343552843 | NPHS2 | c.226G>C (p.Glu76Gln) | |
| 1 | g.179575639C>T | CA343552846 | NPHS2 | c.226G>A (p.Glu76Lys) | |
| 1 | g.179575640C>A | CA343552847 | NPHS2 | c.225G>T (p.Glu75Asp) | |
| 1 | g.179575640C>G | CA343552850 | NPHS2 | c.225G>C (p.Glu75Asp) | |
| 1 | g.179575640C>T | CA421995923 | NPHS2 | c.225G>A (p.Glu75=) | |
| 1 | g.179575641T>A | CA343552869 | NPHS2 | c.224A>T (p.Glu75Val) |