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.179575760_179575761del | CA2649317017 | NPHS2 | c.104_105del (p.Gly35AlafsTer?)
| 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.179575761C>A | CA343553832 | NPHS2 | c.104G>T (p.Gly35Val)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575761C= | CA1210326721 | NPHS2 | c.104G= (p.Gly35=)
| |
1 | g.179575761C>G | CA343553835 | NPHS2 | c.104G>C (p.Gly35Ala)
| |
1 | g.179575761C>T | CA10581522 | NPHS2 | c.104G>A (p.Gly35Asp)
| ClinVar dbSNP gnomAD v4 |
1 | g.179575762dup | CA527598244 | NPHS2 | c.104dup (p.Arg36ProfsTer?)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575762C>A | CA343553862 | NPHS2 | c.103G>T (p.Gly35Cys)
| gnomAD v4 |
1 | g.179575762C= | CA1148399577 | NPHS2 | c.103G= (p.Gly35=)
| |
1 | g.179575762C>G | CA343553858 | NPHS2 | c.103G>C (p.Gly35Arg)
| |
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>A | CA421997345 | NPHS2 | c.102A>T (p.Gly34=)
| dbSNP gnomAD v4 |
1 | g.179575763T>C | CA1267328 | NPHS2 | c.102A>G (p.Gly34=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575763T>G | CA421997350 | NPHS2 | c.102A>C (p.Gly34=)
| |
1 | g.179575763T= | CA1139851443 | NPHS2 | c.102A= (p.Gly34=)
| |
1 | g.179575763delinsCC | CA658822858 | NPHS2 | c.102delinsGG (p.Arg36ProfsTer?)
| ClinVar dbSNP |
1 | g.179575764C>A | CA343553875 | NPHS2 | c.101G>T (p.Gly34Val)
| gnomAD v4 |
1 | g.179575764C= | CA1210326723 | NPHS2 | c.101G= (p.Gly34=)
| |
1 | g.179575764C>G | CA343553871 | NPHS2 | c.101G>C (p.Gly34Ala)
| |
1 | g.179575764C>T | CA343553873 | NPHS2 | c.101G>A (p.Gly34Glu)
| dbSNP gnomAD v4 |
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>A | CA343553877 | NPHS2 | c.100G>T (p.Gly34Ter)
| gnomAD v4 |
1 | g.179575765C= | CA1210326724 | NPHS2 | c.100G= (p.Gly34=)
| |
1 | g.179575765C>G | CA343553879 | NPHS2 | c.100G>C (p.Gly34Arg)
| |
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.179575766G>C | CA421997375 | NPHS2 | c.99C>G (p.Gly33=)
| gnomAD v4 |
1 | g.179575766G= | CA1210326725 | NPHS2 | c.99C= (p.Gly33=)
| |
1 | g.179575766G>T | CA1267329 | NPHS2 | c.99C>A (p.Gly33=)
| dbSNP ExAC gnomAD v4 |
1 | g.179575767C>A | CA343553902 | NPHS2 | c.98G>T (p.Gly33Val)
| gnomAD v4 |
1 | g.179575767C= | CA1210326726 | NPHS2 | c.98G= (p.Gly33=)
| |
1 | g.179575767C>G | CA343553888 | NPHS2 | c.98G>C (p.Gly33Ala)
| gnomAD v4 |
1 | g.179575767C>T | CA343553893 | NPHS2 | c.98G>A (p.Gly33Asp)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575768C>A | CA343553907 | NPHS2 | c.97G>T (p.Gly33Cys)
| gnomAD v4 |
1 | g.179575768C= | CA1210326727 | NPHS2 | c.97G= (p.Gly33=)
| |
1 | g.179575768C>G | CA343553908 | NPHS2 | c.97G>C (p.Gly33Arg)
| 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>C | CA343553913 | NPHS2 | c.96C>G (p.Ser32Arg)
| ClinVar gnomAD v4 |
1 | g.179575769G= | CA1210326728 | NPHS2 | c.96C= (p.Ser32=)
| |
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>A | CA343553923 | NPHS2 | c.95G>T (p.Ser32Ile)
| gnomAD v4 |
1 | g.179575770C= | CA1210326729 | NPHS2 | c.95G= (p.Ser32=)
| |
1 | g.179575770C>G | CA343553921 | NPHS2 | c.95G>C (p.Ser32Thr)
| |
1 | g.179575770C>T | CA343553918 | NPHS2 | c.95G>A (p.Ser32Asn)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575771T>A | CA343553929 | NPHS2 | c.94A>T (p.Ser32Cys)
| |
1 | g.179575771T>C | CA343553932 | NPHS2 | c.94A>G (p.Ser32Gly)
| gnomAD v4 |
1 | g.179575771T>G | CA343553936 | NPHS2 | c.94A>C (p.Ser32Arg)
| |
1 | g.179575772C>A | CA343553942 | NPHS2 | c.93G>T (p.Arg31Ser)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575772C= | CA1210326730 | NPHS2 | c.93G= (p.Arg31=)
| |
1 | g.179575772C>G | CA343553944 | NPHS2 | c.93G>C (p.Arg31Ser)
| |
1 | g.179575772C>T | CA421997441 | NPHS2 | c.93G>A (p.Arg31=)
| ClinVar dbSNP gnomAD v4 |
1 | g.179575773C>A | CA343553958 | NPHS2 | c.92G>T (p.Arg31Met)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575773C= | CA1210326731 | NPHS2 | c.92G= (p.Arg31=)
| |
1 | g.179575773C>G | CA343553964 | NPHS2 | c.92G>C (p.Arg31Thr)
| |
1 | g.179575773C>T | CA343553969 | NPHS2 | c.92G>A (p.Arg31Lys)
| gnomAD v4 |
1 | g.179575774T>A | CA343553973 | NPHS2 | c.91A>T (p.Arg31Trp)
| |
1 | g.179575774T>C | CA343553980 | NPHS2 | c.91A>G (p.Arg31Gly)
| gnomAD v4 |
1 | g.179575774T>G | CA421997456 | NPHS2 | c.91A>C (p.Arg31=)
| |
1 | g.179575775C>A | CA343553987 | NPHS2 | c.90G>T (p.Glu30Asp)
| gnomAD v4 |
1 | g.179575775C= | CA1210326732 | NPHS2 | c.90G= (p.Glu30=)
| |
1 | g.179575775C>G | CA343553984 | NPHS2 | c.90G>C (p.Glu30Asp)
| dbSNP gnomAD v4 |
1 | g.179575775C>T | CA421997469 | NPHS2 | c.90G>A (p.Glu30=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575776T>A | CA343553994 | NPHS2 | c.89A>T (p.Glu30Val)
| gnomAD v4 |
1 | g.179575776T>C | CA343553998 | NPHS2 | c.89A>G (p.Glu30Gly)
| gnomAD v4 |
1 | g.179575776T>G | CA343554002 | NPHS2 | c.89A>C (p.Glu30Ala)
| |
1 | g.179575777C>A | CA343554008 | NPHS2 | c.88G>T (p.Glu30Ter)
| dbSNP gnomAD v4 |
1 | g.179575777C= | CA1210326733 | NPHS2 | c.88G= (p.Glu30=)
| |
1 | g.179575777C>G | CA343554011 | NPHS2 | c.88G>C (p.Glu30Gln)
| |
1 | g.179575777C>T | CA343554016 | NPHS2 | c.88G>A (p.Glu30Lys)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575778G>A | CA1267331 | NPHS2 | c.87C>T (p.Ala29=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575778G>C | CA1267330 | NPHS2 | c.87C>G (p.Ala29=)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575778G= | CA1140367508 | NPHS2 | c.87C= (p.Ala29=)
| |
1 | g.179575778G>T | CA421997492 | NPHS2 | c.87C>A (p.Ala29=)
| gnomAD v4 |
1 | g.179575779G>A | CA343554022 | NPHS2 | c.86C>T (p.Ala29Val)
| gnomAD v4 |
1 | g.179575779G>C | CA343554023 | NPHS2 | c.86C>G (p.Ala29Gly)
| |
1 | g.179575779G>T | CA343554024 | NPHS2 | c.86C>A (p.Ala29Asp)
| gnomAD v4 |
1 | g.179575780C>A | CA343554025 | NPHS2 | c.85G>T (p.Ala29Ser)
| gnomAD v4 |
1 | g.179575780C= | CA1146873955 | NPHS2 | c.85G= (p.Ala29=)
| |
1 | g.179575780C>G | CA343554027 | NPHS2 | c.85G>C (p.Ala29Pro)
| |
1 | g.179575780C>T | CA1267332 | NPHS2 | c.85G>A (p.Ala29Thr)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575781C>A | CA343554034 | NPHS2 | c.84G>T (p.Lys28Asn)
| gnomAD v4 |
1 | g.179575781C>G | CA343554033 | NPHS2 | c.84G>C (p.Lys28Asn)
| |
1 | g.179575781C>T | CA421997528 | NPHS2 | c.84G>A (p.Lys28=)
| gnomAD v4 COSMIC |
1 | g.179575782T>A | CA343554035 | NPHS2 | c.83A>T (p.Lys28Met)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575782T>C | CA343554039 | NPHS2 | c.83A>G (p.Lys28Arg)
| gnomAD v4 |
1 | g.179575782T>G | CA343554040 | NPHS2 | c.83A>C (p.Lys28Thr)
| gnomAD v4 |
1 | g.179575782T= | CA1210326734 | NPHS2 | c.83A= (p.Lys28=)
| |
1 | g.179575784dup | CA2649317022 | NPHS2 | c.83dup (p.Ala29GlyfsTer?)
| gnomAD v4 |
1 | g.179575784del | CA2649317023 | NPHS2 | c.83del (p.Lys28ArgfsTer?)
| gnomAD v4 |
1 | g.179575783T>A | CA343554045 | NPHS2 | c.82A>T (p.Lys28Ter)
| gnomAD v4 |
1 | g.179575783T>C | CA343554047 | NPHS2 | c.82A>G (p.Lys28Glu)
| gnomAD v4 |
1 | g.179575783T>G | CA343554061 | NPHS2 | c.82A>C (p.Lys28Gln)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575783T= | CA1210326735 | NPHS2 | c.82A= (p.Lys28=)
| |
1 | g.179575784T>A | CA421997554 | NPHS2 | c.81A>T (p.Ala27=)
| gnomAD v4 |
1 | g.179575784T>C | CA421997556 | NPHS2 | c.81A>G (p.Ala27=)
| gnomAD v4 |
1 | g.179575784T>G | CA421997557 | NPHS2 | c.81A>C (p.Ala27=)
| |
1 | g.179575785G>A | CA343554069 | NPHS2 | c.80C>T (p.Ala27Val)
| gnomAD v4 |
1 | g.179575785G>C | CA343554065 | NPHS2 | c.80C>G (p.Ala27Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575785G= | CA1210326736 | NPHS2 | c.80C= (p.Ala27=)
| |
1 | g.179575785G>T | CA343554067 | NPHS2 | c.80C>A (p.Ala27Glu)
| gnomAD v4 |
1 | g.179575786C>A | CA343554087 | NPHS2 | c.79G>T (p.Ala27Ser)
| gnomAD v4 |
1 | g.179575786C= | CA1210326737 | NPHS2 | c.79G= (p.Ala27=)
| |
1 | g.179575786C>G | CA343554090 | NPHS2 | c.79G>C (p.Ala27Pro)
| |
1 | g.179575786C>T | CA343554092 | NPHS2 | c.79G>A (p.Ala27Thr)
| dbSNP gnomAD v4 |
1 | g.179575788del | CA2649317024 | NPHS2 | c.79del (p.Ala27GlnfsTer?)
| gnomAD v4 |
1 | g.179575787C>A | CA343554095 | NPHS2 | c.78G>T (p.Arg26Ser)
| gnomAD v4 |
1 | g.179575787C>G | CA343554099 | NPHS2 | c.78G>C (p.Arg26Ser)
| |
1 | g.179575787C>T | CA421997584 | NPHS2 | c.78G>A (p.Arg26=)
| gnomAD v4 |
1 | g.179575788C>A | CA343554125 | NPHS2 | c.77G>T (p.Arg26Met)
| gnomAD v4 |
1 | g.179575788C= | CA1144495706 | NPHS2 | c.77G= (p.Arg26=)
| |
1 | g.179575788C>G | CA343554112 | NPHS2 | c.77G>C (p.Arg26Thr)
| |
1 | g.179575788C>T | CA1267333 | NPHS2 | c.77G>A (p.Arg26Lys)
| dbSNP ExAC gnomAD v3 gnomAD v4 |
1 | g.179575789T>A | CA343554129 | NPHS2 | c.76A>T (p.Arg26Trp)
| gnomAD v4 |
1 | g.179575789T>C | CA343554132 | NPHS2 | c.76A>G (p.Arg26Gly)
| gnomAD v4 |
1 | g.179575789T>G | CA421997601 | NPHS2 | c.76A>C (p.Arg26=)
| |
1 | g.179575790C>A | CA343554134 | NPHS2 | c.75G>T (p.Lys25Asn)
| gnomAD v4 |
1 | g.179575790C= | CA1210326738 | NPHS2 | c.75G= (p.Lys25=)
| |
1 | g.179575790C>G | CA343554136 | NPHS2 | c.75G>C (p.Lys25Asn)
| |
1 | g.179575790C>T | CA421997612 | NPHS2 | c.75G>A (p.Lys25=)
| ClinVar dbSNP gnomAD v4 |
1 | g.179575791T>A | CA343554139 | NPHS2 | c.74A>T (p.Lys25Met)
| gnomAD v4 |
1 | g.179575791T>C | CA343554142 | NPHS2 | c.74A>G (p.Lys25Arg)
| gnomAD v4 |
1 | g.179575791T>G | CA343554144 | NPHS2 | c.74A>C (p.Lys25Thr)
| gnomAD v4 |
1 | g.179575793_179575795del | CA2649317025 | NPHS2 | c.72_74del (p.Asn24del)
| gnomAD v4 |
1 | g.179575792T>A | CA343554147 | NPHS2 | c.73A>T (p.Lys25Ter)
| |
1 | g.179575792T>C | CA343554145 | NPHS2 | c.73A>G (p.Lys25Glu)
| gnomAD v4 |
1 | g.179575792T>G | CA343554146 | NPHS2 | c.73A>C (p.Lys25Gln)
| |
1 | g.179575793del | CA2649317026 | NPHS2 | c.72del (p.Asn24LysfsTer?)
| gnomAD v4 |
1 | g.179575793G>A | CA421997655 | NPHS2 | c.72C>T (p.Asn24=)
| gnomAD v4 |
1 | g.179575793G>C | CA343554148 | NPHS2 | c.72C>G (p.Asn24Lys)
| gnomAD v4 |
1 | g.179575793G>T | CA343554149 | NPHS2 | c.72C>A (p.Asn24Lys)
| gnomAD v4 |
1 | g.179575794T>A | CA343554152 | NPHS2 | c.71A>T (p.Asn24Ile)
| gnomAD v4 |
1 | g.179575794T>C | CA343554155 | NPHS2 | c.71A>G (p.Asn24Ser)
| gnomAD v4 |
1 | g.179575794T>G | CA343554158 | NPHS2 | c.71A>C (p.Asn24Thr)
| gnomAD v4 |
1 | g.179575795T>A | CA343554172 | NPHS2 | c.70A>T (p.Asn24Tyr)
| |
1 | g.179575795T>C | CA343554162 | NPHS2 | c.70A>G (p.Asn24Asp)
| gnomAD v4 |
1 | g.179575795T>G | CA343554169 | NPHS2 | c.70A>C (p.Asn24His)
| |
1 | g.179575795_179575798del | CA913071836 | NPHS2 | c.67_70del (p.Glu23ThrfsTer?)
| |
1 | g.179575795_179575798delinsTCTC | CA1210326739 | NPHS2 | c.67_70delinsGAGA (p.Glu23=)
| |
1 | g.179575796C>A | CA343554180 | NPHS2 | c.69G>T (p.Glu23Asp)
| gnomAD v4 |
1 | g.179575796C>G | CA343554183 | NPHS2 | c.69G>C (p.Glu23Asp)
| gnomAD v4 |
1 | g.179575796C>T | CA421997684 | NPHS2 | c.69G>A (p.Glu23=)
| dbSNP gnomAD v4 |
1 | g.179575796_179575797delinsCT | CA1210326740 | NPHS2 | c.68_69delinsAG (p.Glu23=)
| |
1 | g.179575798_179575800del | CA658822859 | NPHS2 | c.67_69del (p.Glu23del)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575797del | CA527598245 | NPHS2 | c.68del (p.Glu23GlyfsTer?)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575797T>A | CA343554188 | NPHS2 | c.68A>T (p.Glu23Val)
| gnomAD v4 |
1 | g.179575797T>C | CA343554192 | NPHS2 | c.68A>G (p.Glu23Gly)
| gnomAD v4 |
1 | g.179575797T>G | CA343554194 | NPHS2 | c.68A>C (p.Glu23Ala)
| |
1 | g.179575798C>A | CA343554197 | NPHS2 | c.67G>T (p.Glu23Ter)
| gnomAD v4 |
1 | g.179575798C>G | CA343554201 | NPHS2 | c.67G>C (p.Glu23Gln)
| gnomAD v4 |
1 | g.179575798C>T | CA343554211 | NPHS2 | c.67G>A (p.Glu23Lys)
| gnomAD v4 |
1 | g.179575799C>A | CA343554215 | NPHS2 | c.66G>T (p.Lys22Asn)
| gnomAD v4 |
1 | g.179575799C= | CA1210326741 | NPHS2 | c.66G= (p.Lys22=)
| |
1 | g.179575799C>G | CA1267334 | NPHS2 | c.66G>C (p.Lys22Asn)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575799C>T | CA421997705 | NPHS2 | c.66G>A (p.Lys22=)
| ClinVar gnomAD v4 |
1 | g.179575800T>A | CA343554220 | NPHS2 | c.65A>T (p.Lys22Met)
| gnomAD v4 |
1 | g.179575800T>C | CA343554223 | NPHS2 | c.65A>G (p.Lys22Arg)
| gnomAD v4 |
1 | g.179575800T>G | CA343554225 | NPHS2 | c.65A>C (p.Lys22Thr)
| |
1 | g.179575801T>A | CA343554230 | NPHS2 | c.64A>T (p.Lys22Ter)
| gnomAD v4 |
1 | g.179575801T>C | CA343554232 | NPHS2 | c.64A>G (p.Lys22Glu)
| gnomAD v4 |
1 | g.179575801T>G | CA343554231 | NPHS2 | c.64A>C (p.Lys22Gln)
| |
1 | g.179575802G>A | CA421997728 | NPHS2 | c.63C>T (p.His21=)
| gnomAD v4 |
1 | g.179575802G>C | CA343554233 | NPHS2 | c.63C>G (p.His21Gln)
| |
1 | g.179575802G>T | CA343554235 | NPHS2 | c.63C>A (p.His21Gln)
| gnomAD v4 |
1 | g.179575802dup | CA2695199925 | NPHS2 | c.63dup (p.Lys22GlnfsTer?)
| ClinVar |
1 | g.179575802_179575803insC | CA2580061522 | NPHS2 | c.62_63insG (p.His21GlnfsTer?)
| ClinVar |
1 | g.179575803T>A | CA343554237 | NPHS2 | c.62A>T (p.His21Leu)
| |
1 | g.179575803T>C | CA343554239 | NPHS2 | c.62A>G (p.His21Arg)
| gnomAD v4 |
1 | g.179575803T>G | CA343554241 | NPHS2 | c.62A>C (p.His21Pro)
| |
1 | g.179575804G>A | CA343554250 | NPHS2 | c.61C>T (p.His21Tyr)
| gnomAD v4 |
1 | g.179575804G>C | CA343554247 | NPHS2 | c.61C>G (p.His21Asp)
| |
1 | g.179575804G>T | CA343554245 | NPHS2 | c.61C>A (p.His21Asn)
| gnomAD v4 |
1 | g.179575805del | CA2649317027 | NPHS2 | c.60del (p.His21ThrfsTer?)
| gnomAD v4 |
1 | g.179575805C>A | CA421997756 | NPHS2 | c.60G>T (p.Pro20=)
| gnomAD v4 |
1 | g.179575805C>G | CA421997762 | NPHS2 | c.60G>C (p.Pro20=)
| |
1 | g.179575805C>T | CA421997765 | NPHS2 | c.60G>A (p.Pro20=)
| gnomAD v4 |
1 | g.179575806G>A | CA117451 | NPHS2 | c.59C>T (p.Pro20Leu)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575806G>C | CA343554257 | NPHS2 | c.59C>G (p.Pro20Arg)
| gnomAD v4 |
1 | g.179575806G= | CA1140886943 | NPHS2 | c.59C= (p.Pro20=)
| |
1 | g.179575806G>T | CA343554259 | NPHS2 | c.59C>A (p.Pro20Gln)
| gnomAD v4 |
1 | g.179575807G>A | CA343554260 | NPHS2 | c.58C>T (p.Pro20Ser)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575807G>C | CA343554262 | NPHS2 | c.58C>G (p.Pro20Ala)
| |
1 | g.179575807G= | CA1210326742 | NPHS2 | c.58C= (p.Pro20=)
| |
1 | g.179575807G>T | CA343554264 | NPHS2 | c.58C>A (p.Pro20Thr)
| gnomAD v4 |
1 | g.179575808A= | CA1210326743 | NPHS2 | c.57T= (p.Thr19=)
| |
1 | g.179575808A>C | CA421997794 | NPHS2 | c.57T>G (p.Thr19=)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575808A>G | CA421997797 | NPHS2 | c.57T>C (p.Thr19=)
| ClinVar gnomAD v4 |
1 | g.179575808A>T | CA421997799 | NPHS2 | c.57T>A (p.Thr19=)
| |
1 | g.179575809G>A | CA343554266 | NPHS2 | c.56C>T (p.Thr19Ile)
| gnomAD v4 |
1 | g.179575809G>C | CA343554275 | NPHS2 | c.56C>G (p.Thr19Ser)
| |
1 | g.179575809G>T | CA343554268 | NPHS2 | c.56C>A (p.Thr19Asn)
| gnomAD v4 |
1 | g.179575810T>A | CA343554277 | NPHS2 | c.55A>T (p.Thr19Ser)
| |
1 | g.179575810T>C | CA343554278 | NPHS2 | c.55A>G (p.Thr19Ala)
| gnomAD v4 |
1 | g.179575810T>G | CA343554280 | NPHS2 | c.55A>C (p.Thr19Pro)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575810T= | CA1210326744 | NPHS2 | c.55A= (p.Thr19=)
| |
1 | g.179575811C>A | CA343554284 | NPHS2 | c.54G>T (p.Arg18Ser)
| gnomAD v4 |
1 | g.179575811C>G | CA343554286 | NPHS2 | c.54G>C (p.Arg18Ser)
| gnomAD v4 |
1 | g.179575811C>T | CA421998630 | NPHS2 | c.54G>A (p.Arg18=)
| gnomAD v4 |
1 | g.179575812C>A | CA343554289 | NPHS2 | c.53G>T (p.Arg18Met)
| gnomAD v4 |
1 | g.179575812C>G | CA343554291 | NPHS2 | c.53G>C (p.Arg18Thr)
| gnomAD v4 |
1 | g.179575812C>T | CA343554294 | NPHS2 | c.53G>A (p.Arg18Lys)
| gnomAD v4 |
1 | g.179575813T>A | CA343554299 | NPHS2 | c.52A>T (p.Arg18Trp)
| gnomAD v4 |
1 | g.179575813T>C | CA343554301 | NPHS2 | c.52A>G (p.Arg18Gly)
| gnomAD v4 |
1 | g.179575813T>G | CA421998656 | NPHS2 | c.52A>C (p.Arg18=)
| |
1 | g.179575814G>A | CA421998660 | NPHS2 | c.51C>T (p.Gly17=)
| dbSNP gnomAD v4 |
1 | g.179575814G>C | CA421998669 | NPHS2 | c.51C>G (p.Gly17=)
| gnomAD v4 |
1 | g.179575814G= | CA1210326745 | NPHS2 | c.51C= (p.Gly17=)
| |
1 | g.179575814G>T | CA421998671 | NPHS2 | c.51C>A (p.Gly17=)
| gnomAD v4 |
1 | g.179575815C>A | CA343554304 | NPHS2 | c.50G>T (p.Gly17Val)
| gnomAD v4 |
1 | g.179575815C>G | CA343554309 | NPHS2 | c.50G>C (p.Gly17Ala)
| |
1 | g.179575815C>T | CA343554306 | NPHS2 | c.50G>A (p.Gly17Asp)
| gnomAD v4 |
1 | g.179575816C>A | CA343554311 | NPHS2 | c.49G>T (p.Gly17Cys)
| gnomAD v4 |
1 | g.179575816C>G | CA343554314 | NPHS2 | c.49G>C (p.Gly17Arg)
| gnomAD v4 |
1 | g.179575816C>T | CA343554312 | NPHS2 | c.49G>A (p.Gly17Ser)
| gnomAD v4 |
1 | g.179575817del | CA2649317028 | NPHS2 | c.48del (p.Gly17AlafsTer?)
| gnomAD v4 |
1 | g.179575817G>A | CA421998685 | NPHS2 | c.48C>T (p.Gly16=)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575817G>C | CA421998689 | NPHS2 | c.48C>G (p.Gly16=)
| |
1 | g.179575817G= | CA1210326746 | NPHS2 | c.48C= (p.Gly16=)
| |
1 | g.179575817G>T | CA421998691 | NPHS2 | c.48C>A (p.Gly16=)
| gnomAD v4 |
1 | g.179575818C>A | CA343554316 | NPHS2 | c.47G>T (p.Gly16Val)
| gnomAD v4 |
1 | g.179575818C>G | CA343554317 | NPHS2 | c.47G>C (p.Gly16Ala)
| gnomAD v4 |
1 | g.179575818C>T | CA343554320 | NPHS2 | c.47G>A (p.Gly16Asp)
| gnomAD v4 |
1 | g.179575819C>A | CA33654107 | NPHS2 | c.46G>T (p.Gly16Cys)
| dbSNP gnomAD v4 |
1 | g.179575819C= | CA1210326747 | NPHS2 | c.46G= (p.Gly16=)
| |
1 | g.179575819C>G | CA343554325 | NPHS2 | c.46G>C (p.Gly16Arg)
| gnomAD v4 |
1 | g.179575819C>T | CA343554327 | NPHS2 | c.46G>A (p.Gly16Ser)
| gnomAD v4 |
1 | g.179575820T>A | CA421998707 | NPHS2 | c.45A>T (p.Arg15=)
| gnomAD v4 |
1 | g.179575820T>C | CA421998711 | NPHS2 | c.45A>G (p.Arg15=)
| gnomAD v4 |
1 | g.179575820T>G | CA421998710 | NPHS2 | c.45A>C (p.Arg15=)
| |
1 | g.179575821C>A | CA343554329 | NPHS2 | c.44G>T (p.Arg15Leu)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575821C= | CA1210326748 | NPHS2 | c.44G= (p.Arg15=)
| |
1 | g.179575821C>G | CA343554331 | NPHS2 | c.44G>C (p.Arg15Pro)
| |
1 | g.179575821C>T | CA343554334 | NPHS2 | c.44G>A (p.Arg15Gln)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575822_179575823del | CA2649317029 | NPHS2 | c.43_44del (p.Gly16ArgfsTer?)
| gnomAD v4 |
1 | g.179575822G>A | CA343554335 | NPHS2 | c.43C>T (p.Arg15Ter)
| dbSNP gnomAD v4 |
1 | g.179575822G>C | CA343554338 | NPHS2 | c.43C>G (p.Arg15Gly)
| |
1 | g.179575822G= | CA1210326749 | NPHS2 | c.43C= (p.Arg15=)
| |
1 | g.179575822G>T | CA421998719 | NPHS2 | c.43C>A (p.Arg15=)
| gnomAD v4 |
1 | g.179575823C>A | CA421998720 | NPHS2 | c.42G>T (p.Gly14=)
| gnomAD v4 |
1 | g.179575823C= | CA1210326750 | NPHS2 | c.42G= (p.Gly14=)
| |
1 | g.179575823C>G | CA421998722 | NPHS2 | c.42G>C (p.Gly14=)
| dbSNP gnomAD v4 |
1 | g.179575823C>T | CA421998725 | NPHS2 | c.42G>A (p.Gly14=)
| ClinVar dbSNP gnomAD v4 |
1 | g.179575825del | CA2586967770 | NPHS2 | c.42del (p.Arg15GlufsTer?)
| gnomAD v4 |
1 | g.179575824C>A | CA343554346 | NPHS2 | c.41G>T (p.Gly14Val)
| gnomAD v4 |
1 | g.179575824C>G | CA343554344 | NPHS2 | c.41G>C (p.Gly14Ala)
| |
1 | g.179575824C>T | CA343554341 | NPHS2 | c.41G>A (p.Gly14Glu)
| gnomAD v4 |
1 | g.179575825C>A | CA343554349 | NPHS2 | c.40G>T (p.Gly14Trp)
| gnomAD v4 |
1 | g.179575825C= | CA1210326751 | NPHS2 | c.40G= (p.Gly14=)
| |
1 | g.179575825C>G | CA343554351 | NPHS2 | c.40G>C (p.Gly14Arg)
| |
1 | g.179575825C>T | CA33654123 | NPHS2 | c.40G>A (p.Gly14Arg)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575826del | CA2649317030 | NPHS2 | c.39del (p.Arg15GlufsTer?)
| gnomAD v4 |
1 | g.179575826G>A | CA421998751 | NPHS2 | c.39C>T (p.Arg13=)
| gnomAD v4 |
1 | g.179575826G>C | CA421998754 | NPHS2 | c.39C>G (p.Arg13=)
| |
1 | g.179575826G>T | CA421998758 | NPHS2 | c.39C>A (p.Arg13=)
| gnomAD v4 |
1 | g.179575827C>A | CA1267335 | NPHS2 | c.38G>T (p.Arg13Leu)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575827C= | CA1147048817 | NPHS2 | c.38G= (p.Arg13=)
| |
1 | g.179575827C>G | CA343554354 | NPHS2 | c.38G>C (p.Arg13Pro)
| gnomAD v4 |
1 | g.179575827C>T | CA343554355 | NPHS2 | c.38G>A (p.Arg13His)
| gnomAD v4 COSMIC |
1 | g.179575828G>A | CA343554356 | NPHS2 | c.37C>T (p.Arg13Cys)
| gnomAD v4 |
1 | g.179575828G>C | CA343554358 | NPHS2 | c.37C>G (p.Arg13Gly)
| gnomAD v4 |
1 | g.179575828G= | CA1210326752 | NPHS2 | c.37C= (p.Arg13=)
| |
1 | g.179575828G>T | CA33654125 | NPHS2 | c.37C>A (p.Arg13Ser)
| dbSNP gnomAD v4 |
1 | g.179575829G>A | CA421998779 | NPHS2 | c.36C>T (p.Ser12=)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575829G>C | CA421998782 | NPHS2 | c.36C>G (p.Ser12=)
| gnomAD v4 |
1 | g.179575829G= | CA1210326753 | NPHS2 | c.36C= (p.Ser12=)
| |
1 | g.179575829G>T | CA421998785 | NPHS2 | c.36C>A (p.Ser12=)
| gnomAD v4 |
1 | g.179575830G>A | CA343554360 | NPHS2 | c.35C>T (p.Ser12Phe)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575830G>C | CA343554362 | NPHS2 | c.35C>G (p.Ser12Cys)
| |
1 | g.179575830G>T | CA343554364 | NPHS2 | c.35C>A (p.Ser12Tyr)
| gnomAD v4 |
1 | g.179575831A>C | CA343554371 | NPHS2 | c.34T>G (p.Ser12Ala)
| gnomAD v4 |
1 | g.179575831A>G | CA343554369 | NPHS2 | c.34T>C (p.Ser12Pro)
| |
1 | g.179575831A>T | CA343554367 | NPHS2 | c.34T>A (p.Ser12Thr)
| |
1 | g.179575832C>A | CA343554376 | NPHS2 | c.33G>T (p.Glu11Asp)
| gnomAD v4 |
1 | g.179575832C>G | CA343554375 | NPHS2 | c.33G>C (p.Glu11Asp)
| |
1 | g.179575832C>T | CA421998807 | NPHS2 | c.33G>A (p.Glu11=)
| gnomAD v4 |
1 | g.179575833T>A | CA343554378 | NPHS2 | c.32A>T (p.Glu11Val)
| |
1 | g.179575833T>C | CA343554380 | NPHS2 | c.32A>G (p.Glu11Gly)
| gnomAD v4 |
1 | g.179575833T>G | CA343554382 | NPHS2 | c.32A>C (p.Glu11Ala)
| |
1 | g.179575834C>A | CA343554384 | NPHS2 | c.31G>T (p.Glu11Ter)
| gnomAD v4 |
1 | g.179575834C= | CA1144671635 | NPHS2 | c.31G= (p.Glu11=)
| |
1 | g.179575834C>G | CA343554388 | NPHS2 | c.31G>C (p.Glu11Gln)
| gnomAD v4 |
1 | g.179575834C>T | CA33654130 | NPHS2 | c.31G>A (p.Glu11Lys)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575836dup | CA2825000873 | NPHS2 | c.31dup (p.Glu11GlyfsTer?)
| ClinVar |
1 | g.179575836del | CA2649317032 | NPHS2 | c.31del (p.Glu11SerfsTer?)
| ClinVar gnomAD v4 |
1 | g.179575838_179575855del | CA2649317031 | NPHS2 | c.14_31del (p.Ala5_Arg10del)
| gnomAD v4 |
1 | g.179575835C>A | CA343554390 | NPHS2 | c.30G>T (p.Arg10Ser)
| gnomAD v4 |
1 | g.179575835C= | CA1210326754 | NPHS2 | c.30G= (p.Arg10=)
| |
1 | g.179575835C>G | CA1267336 | NPHS2 | c.30G>C (p.Arg10Ser)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179575835C>T | CA421998825 | NPHS2 | c.30G>A (p.Arg10=)
| gnomAD v4 |
1 | g.179575835_179575837del | CA2649317033 | NPHS2 | c.28_30del (p.Arg10del)
| gnomAD v4 |
1 | g.179575836C>A | CA343554392 | NPHS2 | c.29G>T (p.Arg10Met)
| gnomAD v4 |
1 | g.179575836C= | CA1210326755 | NPHS2 | c.29G= (p.Arg10=)
| |
1 | g.179575836C>G | CA33654147 | NPHS2 | c.29G>C (p.Arg10Thr)
| ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575836C>T | CA33654152 | NPHS2 | c.29G>A (p.Arg10Lys)
| dbSNP gnomAD v4 |
1 | g.179575837del | CA2649317034 | NPHS2 | c.28del (p.Arg10GlyfsTer?)
| gnomAD v4 |
1 | g.179575837T>A | CA343554393 | NPHS2 | c.28A>T (p.Arg10Trp)
| gnomAD v4 |
1 | g.179575837T>C | CA343554396 | NPHS2 | c.28A>G (p.Arg10Gly)
| gnomAD v4 |
1 | g.179575837T>G | CA421998839 | NPHS2 | c.28A>C (p.Arg10=)
| |
1 | g.179575837dup | CA658656977 | NPHS2 | c.28dup (p.Arg10LysfsTer?)
| ClinVar dbSNP gnomAD v4 |
1 | g.179575838G>A | CA421998841 | NPHS2 | c.27C>T (p.Ser9=)
| gnomAD v4 |
1 | g.179575838G>C | CA421998846 | NPHS2 | c.27C>G (p.Ser9=)
| gnomAD v4 |
1 | g.179575838G>T | CA421998843 | NPHS2 | c.27C>A (p.Ser9=)
| gnomAD v4 |
1 | g.179575839del | CA2649317035 | NPHS2 | c.27del (p.Arg10GlyfsTer?)
| gnomAD v4 |
1 | g.179575839G>A | CA343554397 | NPHS2 | c.26C>T (p.Ser9Phe)
| gnomAD v4 |
1 | g.179575839G>C | CA343554399 | NPHS2 | c.26C>G (p.Ser9Cys)
| |
1 | g.179575839G>T | CA343554398 | NPHS2 | c.26C>A (p.Ser9Tyr)
| gnomAD v4 |
1 | g.179575839_179575845del | CA2649317036 | NPHS2 | c.20_26del (p.Ser7ThrfsTer?)
| gnomAD v4 |
1 | g.179575840A>C | CA343554400 | NPHS2 | c.25T>G (p.Ser9Ala)
| |
1 | g.179575840A>G | CA343554401 | NPHS2 | c.25T>C (p.Ser9Pro)
| gnomAD v4 |
1 | g.179575840A>T | CA343554402 | NPHS2 | c.25T>A (p.Ser9Thr)
| |
1 | g.179575841G>A | CA33654160 | NPHS2 | c.24C>T (p.Ser8=)
| ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575841G>C | CA421998873 | NPHS2 | c.24C>G (p.Ser8=)
| |
1 | g.179575841G= | CA1143525164 | NPHS2 | c.24C= (p.Ser8=)
| |
1 | g.179575841G>T | CA421998876 | NPHS2 | c.24C>A (p.Ser8=)
| gnomAD v4 |
1 | g.179575842G>A | CA343554404 | NPHS2 | c.23C>T (p.Ser8Phe)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575842G>C | CA343554407 | NPHS2 | c.23C>G (p.Ser8Cys)
| |
1 | g.179575842G= | CA1210326756 | NPHS2 | c.23C= (p.Ser8=)
| |
1 | g.179575842G>T | CA343554409 | NPHS2 | c.23C>A (p.Ser8Tyr)
| gnomAD v4 |
1 | g.179575843A>C | CA343554410 | NPHS2 | c.22T>G (p.Ser8Ala)
| |
1 | g.179575843A>G | CA343554411 | NPHS2 | c.22T>C (p.Ser8Pro)
| gnomAD v4 |
1 | g.179575843A>T | CA343554413 | NPHS2 | c.22T>A (p.Ser8Thr)
| |
1 | g.179575844G>A | CA421998896 | NPHS2 | c.21C>T (p.Ser7=)
| ClinVar dbSNP gnomAD v4 |
1 | g.179575844G>C | CA343554415 | NPHS2 | c.21C>G (p.Ser7Arg)
| gnomAD v4 |
1 | g.179575844G= | CA1210326757 | NPHS2 | c.21C= (p.Ser7=)
| |
1 | g.179575844G>T | CA1267337 | NPHS2 | c.21C>A (p.Ser7Arg)
| dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575845C>A | CA343554418 | NPHS2 | c.20G>T (p.Ser7Ile)
| gnomAD v4 |
1 | g.179575845C>G | CA343554420 | NPHS2 | c.20G>C (p.Ser7Thr)
| |
1 | g.179575845C>T | CA343554417 | NPHS2 | c.20G>A (p.Ser7Asn)
| gnomAD v4 |
1 | g.179575846T>A | CA343554423 | NPHS2 | c.19A>T (p.Ser7Cys)
| |
1 | g.179575846T>C | CA343554425 | NPHS2 | c.19A>G (p.Ser7Gly)
| gnomAD v4 |
1 | g.179575846T>G | CA343554424 | NPHS2 | c.19A>C (p.Ser7Arg)
| |
1 | g.179575847C>A | CA421998927 | NPHS2 | c.18G>T (p.Arg6=)
| gnomAD v4 |
1 | g.179575847C= | CA1210326758 | NPHS2 | c.18G= (p.Arg6=)
| |
1 | g.179575847C>G | CA421998920 | NPHS2 | c.18G>C (p.Arg6=)
| gnomAD v4 |
1 | g.179575847C>T | CA421998923 | NPHS2 | c.18G>A (p.Arg6=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575848C>A | CA343554426 | NPHS2 | c.17G>T (p.Arg6Leu)
| gnomAD v4 |
1 | g.179575848C= | CA1210326759 | NPHS2 | c.17G= (p.Arg6=)
| |
1 | g.179575848C>G | CA343554427 | NPHS2 | c.17G>C (p.Arg6Pro)
| gnomAD v4 |
1 | g.179575848C>T | CA1267338 | NPHS2 | c.17G>A (p.Arg6Gln)
| ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575849G>A | CA343554429 | NPHS2 | c.16C>T (p.Arg6Trp)
| gnomAD v4 |
1 | g.179575849G>C | CA343554430 | NPHS2 | c.16C>G (p.Arg6Gly)
| dbSNP gnomAD v2 |
1 | g.179575849G= | CA1210326760 | NPHS2 | c.16C= (p.Arg6=)
| |
1 | g.179575849G>T | CA421998943 | NPHS2 | c.16C>A (p.Arg6=)
| gnomAD v4 |
1 | g.179575850C>A | CA421998948 | NPHS2 | c.15G>T (p.Ala5=)
| gnomAD v4 |
1 | g.179575850C>G | CA421998951 | NPHS2 | c.15G>C (p.Ala5=)
| |
1 | g.179575850C>T | CA421998954 | NPHS2 | c.15G>A (p.Ala5=)
| ClinVar gnomAD v4 COSMIC |
1 | g.179575851G>A | CA343554432 | NPHS2 | c.14C>T (p.Ala5Val)
| dbSNP gnomAD v4 |
1 | g.179575851G>C | CA343554433 | NPHS2 | c.14C>G (p.Ala5Gly)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575851G= | CA1210326761 | NPHS2 | c.14C= (p.Ala5=)
| |
1 | g.179575851G>T | CA343554435 | NPHS2 | c.14C>A (p.Ala5Glu)
| dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575852C>A | CA343554437 | NPHS2 | c.13G>T (p.Ala5Ser)
| gnomAD v4 |
1 | g.179575852C>G | CA343554438 | NPHS2 | c.13G>C (p.Ala5Pro)
| gnomAD v4 |
1 | g.179575852C>T | CA343554440 | NPHS2 | c.13G>A (p.Ala5Thr)
| gnomAD v4 |
1 | g.179575854del | CA2649317037 | NPHS2 | c.13del (p.Ala5ArgfsTer?)
| gnomAD v4 |
1 | g.179575852_179575855delinsCCCT | CA1210326762 | NPHS2 | c.10_13delinsAGGG (p.Arg4=)
| |
1 | g.179575854_179575857del | CA913071837 | NPHS2 | c.10_13del (p.Ala5GlyfsTer?)
| |
1 | g.179575853C>A | CA343554443 | NPHS2 | c.12G>T (p.Arg4Ser)
| gnomAD v4 |
1 | g.179575853C= | CA1210326763 | NPHS2 | c.12G= (p.Arg4=)
| |
1 | g.179575853C>G | CA343554441 | NPHS2 | c.12G>C (p.Arg4Ser)
| |
1 | g.179575853C>T | CA421998979 | NPHS2 | c.12G>A (p.Arg4=)
| ClinVar dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575857_179575859del | CA658822860 | NPHS2 | c.10_12del (p.Arg4del)
| ClinVar dbSNP |
1 | g.179575854C>A | CA343554445 | NPHS2 | c.11G>T (p.Arg4Met)
| gnomAD v4 |
1 | g.179575854C= | CA1210326764 | NPHS2 | c.11G= (p.Arg4=)
| |
1 | g.179575854C>G | CA343554447 | NPHS2 | c.11G>C (p.Arg4Thr)
| |
1 | g.179575854C>T | CA33654199 | NPHS2 | c.11G>A (p.Arg4Lys)
| dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575855T>A | CA343554448 | NPHS2 | c.10A>T (p.Arg4Trp)
| |
1 | g.179575855T>C | CA343554450 | NPHS2 | c.10A>G (p.Arg4Gly)
| gnomAD v4 |
1 | g.179575855T>G | CA421998999 | NPHS2 | c.10A>C (p.Arg4=)
| |
1 | g.179575856C>A | CA343554452 | NPHS2 | c.9G>T (p.Arg3Ser)
| dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575856C= | CA1210326765 | NPHS2 | c.9G= (p.Arg3=)
| |
1 | g.179575856C>G | CA343554454 | NPHS2 | c.9G>C (p.Arg3Ser)
| |
1 | g.179575856C>T | CA421999012 | NPHS2 | c.9G>A (p.Arg3=)
| gnomAD v4 |
1 | g.179575857C>A | CA343554455 | NPHS2 | c.8G>T (p.Arg3Met)
| gnomAD v4 |
1 | g.179575857C= | CA1210326766 | NPHS2 | c.8G= (p.Arg3=)
| |
1 | g.179575857C>G | CA343554456 | NPHS2 | c.8G>C (p.Arg3Thr)
| |
1 | g.179575857C>T | CA343554457 | NPHS2 | c.8G>A (p.Arg3Lys)
| dbSNP gnomAD v4 |
1 | g.179575858T>A | CA343554459 | NPHS2 | c.7A>T (p.Arg3Trp)
| |
1 | g.179575858T>C | CA343554461 | NPHS2 | c.7A>G (p.Arg3Gly)
| gnomAD v4 |
1 | g.179575858T>G | CA421999030 | NPHS2 | c.7A>C (p.Arg3=)
| |
1 | g.179575859C>A | CA1267339 | NPHS2 | c.6G>T (p.Glu2Asp)
| dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179575859C= | CA1210326767 | NPHS2 | c.6G= (p.Glu2=)
| |
1 | g.179575859C>G | CA343554463 | NPHS2 | c.6G>C (p.Glu2Asp)
| |
1 | g.179575859C>T | CA421999042 | NPHS2 | c.6G>A (p.Glu2=)
| gnomAD v4 |
1 | g.179575860T>A | CA343554466 | NPHS2 | c.5A>T (p.Glu2Val)
| gnomAD v4 |
1 | g.179575860T>C | CA343554467 | NPHS2 | c.5A>G (p.Glu2Gly)
| gnomAD v4 |
1 | g.179575860T>G | CA343554468 | NPHS2 | c.5A>C (p.Glu2Ala)
| |
1 | g.179575861C>A | CA343554469 | NPHS2 | c.4G>T (p.Glu2Ter)
| gnomAD v4 |
1 | g.179575861C>G | CA343554470 | NPHS2 | c.4G>C (p.Glu2Gln)
| gnomAD v4 |
1 | g.179575861C>T | CA343554471 | NPHS2 | c.4G>A (p.Glu2Lys)
| gnomAD v4 |
1 | g.179575862del | CA2746821933 | NPHS2 | c.4del (p.Glu2ArgfsTer?)
| |