Chr Mutation (hg38) CAid Gene Transcript Linkouts
1g.179575711_179575819delCA2580061520NPHS2c.48_156del (p.Gly17ProfsTer?)
ClinVar
1g.179575751_179575814delCA2649317013NPHS2c.56_119del (p.Thr19ArgfsTer?)
gnomAD v4
1g.179575761_179575829delCA2649317014NPHS2c.45_113del (p.Gly16_Arg38del)
gnomAD v4
1g.179575761_179575830delCA2649317016NPHS2c.37_106del (p.Arg13AlafsTer?)
gnomAD v4
1g.179575762_179575763insCCAGCCCA2649317019NPHS2c.105_106insTGGGGC (p.Gly35_Arg36insTrpGly)
gnomAD v4
1g.179575762_179575763insCCCGCCCA2649317018NPHS2c.105_106insGGGGGC (p.Gly35_Arg36insGlyGly)
gnomAD v4
1g.179575762dupCA527598244NPHS2c.104dup (p.Arg36ProfsTer?)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.179575762C>ACA343553862NPHS2c.103G>T (p.Gly35Cys)
gnomAD v4
1g.179575762C=CA1148399577NPHS2c.103G= (p.Gly35=)
1g.179575762C>GCA343553858NPHS2c.103G>C (p.Gly35Arg)
1g.179575762C>TCA1267327NPHS2c.103G>A (p.Gly35Ser)
dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.179575762_179575763delinsCTCA1210326722NPHS2c.102_103delinsAG (p.Gly34=)
1g.179575763delCA2573958446NPHS2c.102del (p.Gly35AlafsTer?)
gnomAD v4
1g.179575763T>ACA421997345NPHS2c.102A>T (p.Gly34=)
dbSNP gnomAD v4
1g.179575763T>CCA1267328NPHS2c.102A>G (p.Gly34=)
ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
1g.179575763T>GCA421997350NPHS2c.102A>C (p.Gly34=)
1g.179575763T=CA1139851443NPHS2c.102A= (p.Gly34=)
1g.179575763delinsCCCA658822858NPHS2c.102delinsGG (p.Arg36ProfsTer?)
ClinVar dbSNP
1g.179575764C>ACA343553875NPHS2c.101G>T (p.Gly34Val)
gnomAD v4
1g.179575764C=CA1210326723NPHS2c.101G= (p.Gly34=)
1g.179575764C>GCA343553871NPHS2c.101G>C (p.Gly34Ala)
1g.179575764C>TCA343553873NPHS2c.101G>A (p.Gly34Glu)
dbSNP gnomAD v4
1g.179575765_179575766insTGGCGCCCGCGGCCCCCCA2649317021NPHS2c.101_102insGGGCCGCGGGCGCCAGG (p.Gly42AlafsTer?)
gnomAD v4
1g.179575764_179575765dupCA2649317020NPHS2c.100_101dup (p.Gly35GlufsTer?)
gnomAD v4
1g.179575765C>ACA343553877NPHS2c.100G>T (p.Gly34Ter)
gnomAD v4
1g.179575765C=CA1210326724NPHS2c.100G= (p.Gly34=)
1g.179575765C>GCA343553879NPHS2c.100G>C (p.Gly34Arg)
1g.179575765C>TCA33654071NPHS2c.100G>A (p.Gly34Arg)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.179575766G>ACA421997370NPHS2c.99C>T (p.Gly33=)
dbSNP gnomAD v2 gnomAD v4
1g.179575766G>CCA421997375NPHS2c.99C>G (p.Gly33=)
gnomAD v4
1g.179575766G=CA1210326725NPHS2c.99C= (p.Gly33=)
1g.179575766G>TCA1267329NPHS2c.99C>A (p.Gly33=)
dbSNP ExAC gnomAD v4
1g.179575767C>ACA343553902NPHS2c.98G>T (p.Gly33Val)
gnomAD v4
1g.179575767C=CA1210326726NPHS2c.98G= (p.Gly33=)
1g.179575767C>GCA343553888NPHS2c.98G>C (p.Gly33Ala)
gnomAD v4
1g.179575767C>TCA343553893NPHS2c.98G>A (p.Gly33Asp)
dbSNP gnomAD v2 gnomAD v4
1g.179575768C>ACA343553907NPHS2c.97G>T (p.Gly33Cys)
gnomAD v4
1g.179575768C=CA1210326727NPHS2c.97G= (p.Gly33=)
1g.179575768C>GCA343553908NPHS2c.97G>C (p.Gly33Arg)
gnomAD v4
1g.179575768C>TCA343553911NPHS2c.97G>A (p.Gly33Ser)
dbSNP gnomAD v2 gnomAD v4
1g.179575769G>ACA421997400NPHS2c.96C>T (p.Ser32=)
dbSNP gnomAD v2 gnomAD v4
1g.179575769G>CCA343553913NPHS2c.96C>G (p.Ser32Arg)
gnomAD v4
1g.179575769G=CA1210326728NPHS2c.96C= (p.Ser32=)
1g.179575769G>TCA10605787NPHS2c.96C>A (p.Ser32Arg)
ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.179575769_179575770insTACA16040672NPHS2c.95_96insTA (p.Gly33ThrfsTer?)
ClinVar dbSNP
1g.179575770C>ACA343553923NPHS2c.95G>T (p.Ser32Ile)
gnomAD v4
1g.179575770C=CA1210326729NPHS2c.95G= (p.Ser32=)
1g.179575770C>GCA343553921NPHS2c.95G>C (p.Ser32Thr)
1g.179575770C>TCA343553918NPHS2c.95G>A (p.Ser32Asn)
dbSNP gnomAD v2 gnomAD v3 gnomAD v4
1g.179575771T>ACA343553929NPHS2c.94A>T (p.Ser32Cys)

Number of alleles fetched