Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
1 | g.179575712dup | CA2649317008 | NPHS2 | c.156dup (p.Thr53AspfsTer17) | gnomAD v4 |
1 | g.179575712del | CA658683169 | NPHS2 | c.156del (p.Thr53ProfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575711_179575819del | CA2580061520 | NPHS2 | c.48_156del (p.Gly17ProfsTer?) | ClinVar |
1 | g.179575711C>A | CA343553411 | NPHS2 | c.154G>T (p.Gly52Trp) | gnomAD v4 |
1 | g.179575711C= | CA1210326687 | NPHS2 | c.154G= (p.Gly52=) | |
1 | g.179575711C>G | CA343553413 | NPHS2 | c.154G>C (p.Gly52Arg) | |
1 | g.179575711C>T | CA343553417 | NPHS2 | c.154G>A (p.Gly52Arg) | dbSNP |
1 | g.179575712C>A | CA421996756 | NPHS2 | c.153G>T (p.Ala51=) | gnomAD v4 |
1 | g.179575712C>G | CA421996759 | NPHS2 | c.153G>C (p.Ala51=) | |
1 | g.179575712C>T | CA421996761 | NPHS2 | c.153G>A (p.Ala51=) | dbSNP |
1 | g.179575713G>A | CA33653875 | NPHS2 | c.152C>T (p.Ala51Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575713G>C | CA343553422 | NPHS2 | c.152C>G (p.Ala51Gly) | |
1 | g.179575713G= | CA1210326688 | NPHS2 | c.152C= (p.Ala51=) | |
1 | g.179575713G>T | CA343553427 | NPHS2 | c.152C>A (p.Ala51Glu) | gnomAD v4 |
1 | g.179575713_179575714delinsAG | CA2580061521 | NPHS2 | c.151_152delinsCT (p.Ala51Leu) | ClinVar |
1 | g.179575714C>A | CA343553434 | NPHS2 | c.151G>T (p.Ala51Ser) | dbSNP |
1 | g.179575714C= | CA1210326689 | NPHS2 | c.151G= (p.Ala51=) | |
1 | g.179575714C>G | CA33653880 | NPHS2 | c.151G>C (p.Ala51Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575714C>T | CA343553440 | NPHS2 | c.151G>A (p.Ala51Thr) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575715C>A | CA421996786 | NPHS2 | c.150G>T (p.Arg50=) | COSMIC |
1 | g.179575715C= | CA1210326690 | NPHS2 | c.150G= (p.Arg50=) | |
1 | g.179575715C>G | CA421996791 | NPHS2 | c.150G>C (p.Arg50=) | |
1 | g.179575715C>T | CA421996792 | NPHS2 | c.150G>A (p.Arg50=) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575716C>A | CA343553449 | NPHS2 | c.149G>T (p.Arg50Leu) | gnomAD v4 |
1 | g.179575716C= | CA1210326691 | NPHS2 | c.149G= (p.Arg50=) | |
1 | g.179575716C>G | CA343553452 | NPHS2 | c.149G>C (p.Arg50Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575716C>T | CA343553450 | NPHS2 | c.149G>A (p.Arg50Gln) | gnomAD v4 |
1 | g.179575717del | CA2649317009 | NPHS2 | c.148del (p.Arg50GlyfsTer?) | gnomAD v4 |
1 | g.179575717G>A | CA10608825 | NPHS2 | c.148C>T (p.Arg50Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575717G>C | CA343553458 | NPHS2 | c.148C>G (p.Arg50Gly) | dbSNP gnomAD v4 |
1 | g.179575717G= | CA1210326692 | NPHS2 | c.148C= (p.Arg50=) | |
1 | g.179575717G>T | CA421996804 | NPHS2 | c.148C>A (p.Arg50=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575718T>A | CA421996809 | NPHS2 | c.147A>T (p.Gly49=) | |
1 | g.179575718T>C | CA421996812 | NPHS2 | c.147A>G (p.Gly49=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575718T>G | CA421996816 | NPHS2 | c.147A>C (p.Gly49=) | |
1 | g.179575718T= | CA1210326693 | NPHS2 | c.147A= (p.Gly49=) | |
1 | g.179575719C>A | CA343553463 | NPHS2 | c.146G>T (p.Gly49Val) | |
1 | g.179575719C= | CA1210326694 | NPHS2 | c.146G= (p.Gly49=) | |
1 | g.179575719C>G | CA343553466 | NPHS2 | c.146G>C (p.Gly49Ala) | dbSNP |
1 | g.179575719C>T | CA343553470 | NPHS2 | c.146G>A (p.Gly49Glu) | |
1 | g.179575720C>A | CA343553475 | NPHS2 | c.145G>T (p.Gly49Ter) | gnomAD v4 |
1 | g.179575720C>G | CA343553495 | NPHS2 | c.145G>C (p.Gly49Arg) | gnomAD v4 |
1 | g.179575720C>T | CA343553498 | NPHS2 | c.145G>A (p.Gly49Arg) | |
1 | g.179575721G>A | CA1267307 | NPHS2 | c.144C>T (p.Ser48=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575721G>C | CA421996847 | NPHS2 | c.144C>G (p.Ser48=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575721G= | CA1141195170 | NPHS2 | c.144C= (p.Ser48=) | |
1 | g.179575721G>T | CA421996851 | NPHS2 | c.144C>A (p.Ser48=) | |
1 | g.179575722G>A | CA343553503 | NPHS2 | c.143C>T (p.Ser48Phe) | gnomAD v4 COSMIC |
1 | g.179575722G>C | CA343553501 | NPHS2 | c.143C>G (p.Ser48Cys) | |
1 | g.179575722G= | CA1210326695 | NPHS2 | c.143C= (p.Ser48=) |