| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 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.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 |