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.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) |