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.179575762_179575763insCCAGCC | CA2649317019 | NPHS2 | c.105_106insTGGGGC (p.Gly35_Arg36insTrpGly)
| gnomAD v4 |
1 | g.179575762_179575763insCCCGCC | CA2649317018 | NPHS2 | c.105_106insGGGGGC (p.Gly35_Arg36insGlyGly)
| gnomAD v4 |
1 | g.179575762dup | CA527598244 | NPHS2 | c.104dup (p.Arg36ProfsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575762C>T | CA1267327 | NPHS2 | c.103G>A (p.Gly35Ser)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575762_179575763delinsCT | CA1210326722 | NPHS2 | c.102_103delinsAG (p.Gly34=)
| |
1 | g.179575763del | CA2573958446 | NPHS2 | c.102del (p.Gly35AlafsTer?)
| gnomAD v4 |
1 | g.179575763T>C | CA1267328 | NPHS2 | c.102A>G (p.Gly34=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575763delinsCC | CA658822858 | NPHS2 | c.102delinsGG (p.Arg36ProfsTer?)
| ClinVar dbSNP |
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>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.179575767C>T | CA343553893 | NPHS2 | c.98G>A (p.Gly33Asp)
| dbSNP gnomAD v2 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>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>T | CA343553918 | NPHS2 | c.95G>A (p.Ser32Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |