Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.35849102C>A | CA405406878 | NPHS1 | c.886G>T (p.Ala296Ser) | |
19 | g.35849102C= | CA2333850728 | NPHS1 | c.886G= (p.Ala296=) | |
19 | g.35849102C>G | CA405406879 | NPHS1 | c.886G>C (p.Ala296Pro) | |
19 | g.35849102C>T | CA250277 | NPHS1 | c.886G>A (p.Ala296Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
19 | g.35849103C>A | CA405406880 | NPHS1 | c.885G>T (p.Gln295His) | |
19 | g.35849103C>G | CA405406881 | NPHS1 | c.885G>C (p.Gln295His) | |
19 | g.35849103C>T | CA507314473 | NPHS1 | c.885G>A (p.Gln295=) | |
19 | g.35849104T>A | CA405406884 | NPHS1 | c.884A>T (p.Gln295Leu) | |
19 | g.35849104T>C | CA405406882 | NPHS1 | c.884A>G (p.Gln295Arg) | |
19 | g.35849104T>G | CA405406883 | NPHS1 | c.884A>C (p.Gln295Pro) | |
19 | g.35849105G>A | CA405406885 | NPHS1 | c.883C>T (p.Gln295Ter) | |
19 | g.35849105G>C | CA405406886 | NPHS1 | c.883C>G (p.Gln295Glu) | |
19 | g.35849105G>T | CA405406887 | NPHS1 | c.883C>A (p.Gln295Lys) | |
19 | g.35849106G>A | CA507314476 | NPHS1 | c.882C>T (p.Thr294=) | dbSNP |
19 | g.35849106G>C | CA507314477 | NPHS1 | c.882C>G (p.Thr294=) | |
19 | g.35849106G= | CA2333850729 | NPHS1 | c.882C= (p.Thr294=) | |
19 | g.35849106G>T | CA507314478 | NPHS1 | c.882C>A (p.Thr294=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
19 | g.35849107G>A | CA9390609 | NPHS1 | c.881C>T (p.Thr294Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849107G>C | CA405406888 | NPHS1 | c.881C>G (p.Thr294Ser) | |
19 | g.35849107G= | CA2333850730 | NPHS1 | c.881C= (p.Thr294=) | |
19 | g.35849107G>T | CA405406889 | NPHS1 | c.881C>A (p.Thr294Asn) | gnomAD v4 |
19 | g.35849108T>A | CA405406890 | NPHS1 | c.880A>T (p.Thr294Ser) | |
19 | g.35849108T>C | CA405406891 | NPHS1 | c.880A>G (p.Thr294Ala) | |
19 | g.35849108T>G | CA405406892 | NPHS1 | c.880A>C (p.Thr294Pro) | |
19 | g.35849109G>A | CA507314482 | NPHS1 | c.879C>T (p.His293=) | dbSNP gnomAD v2 gnomAD v4 |
19 | g.35849109G>C | CA405406893 | NPHS1 | c.879C>G (p.His293Gln) | |
19 | g.35849109G= | CA2333850731 | NPHS1 | c.879C= (p.His293=) | |
19 | g.35849109G>T | CA405406894 | NPHS1 | c.879C>A (p.His293Gln) | |
19 | g.35849110T>A | CA405406896 | NPHS1 | c.878A>T (p.His293Leu) | |
19 | g.35849110T>C | CA9390610 | NPHS1 | c.878A>G (p.His293Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.35849110T>G | CA405406895 | NPHS1 | c.878A>C (p.His293Pro) | |
19 | g.35849110T= | CA2333850732 | NPHS1 | c.878A= (p.His293=) | |
19 | g.35849111G>A | CA405406899 | NPHS1 | c.877C>T (p.His293Tyr) | |
19 | g.35849111G>C | CA405406897 | NPHS1 | c.877C>G (p.His293Asp) | |
19 | g.35849111G>T | CA405406898 | NPHS1 | c.877C>A (p.His293Asn) | |
19 | g.35849111dup | CA2580096885 | NPHS1 | c.877dup (p.His293ProfsTer?) | ClinVar |
19 | g.35849112C>A | CA405406900 | NPHS1 | c.876G>T (p.Glu292Asp) | |
19 | g.35849112C>G | CA405406901 | NPHS1 | c.876G>C (p.Glu292Asp) | |
19 | g.35849112C>T | CA507314486 | NPHS1 | c.876G>A (p.Glu292=) | gnomAD v4 COSMIC |
19 | g.35849113T>A | CA405406902 | NPHS1 | c.875A>T (p.Glu292Val) | |
19 | g.35849113T>C | CA405406903 | NPHS1 | c.875A>G (p.Glu292Gly) | |
19 | g.35849113T>G | CA405406904 | NPHS1 | c.875A>C (p.Glu292Ala) | |
19 | g.35849114C>A | CA405406905 | NPHS1 | c.874G>T (p.Glu292Ter) | |
19 | g.35849114C>G | CA405406906 | NPHS1 | c.874G>C (p.Glu292Gln) | |
19 | g.35849114C>T | CA405406907 | NPHS1 | c.874G>A (p.Glu292Lys) | |
19 | g.35849115T>A | CA507314492 | NPHS1 | c.873A>T (p.Thr291=) | gnomAD v4 |
19 | g.35849115T>C | CA507314491 | NPHS1 | c.873A>G (p.Thr291=) | |
19 | g.35849115T>G | CA507314493 | NPHS1 | c.873A>C (p.Thr291=) | |
19 | g.35849116G>A | CA405406908 | NPHS1 | c.872C>T (p.Thr291Ile) | dbSNP gnomAD v2 |
19 | g.35849116G>C | CA405406909 | NPHS1 | c.872C>G (p.Thr291Arg) | gnomAD v4 |