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.179575751G>A | CA421997207 | NPHS2 | c.114C>T (p.Arg38=) | gnomAD v4 |
1 | g.179575751G>C | CA421997209 | NPHS2 | c.114C>G (p.Arg38=) | |
1 | g.179575751G= | CA1210326711 | NPHS2 | c.114C= (p.Arg38=) | |
1 | g.179575751G>T | CA421997218 | NPHS2 | c.114C>A (p.Arg38=) | ClinVar dbSNP gnomAD v4 |
1 | g.179575752C>A | CA1267318 | NPHS2 | c.113G>T (p.Arg38Leu) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179575752C= | CA1210326712 | NPHS2 | c.113G= (p.Arg38=) | |
1 | g.179575752C>G | CA343553778 | NPHS2 | c.113G>C (p.Arg38Pro) | dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575752C>T | CA343553787 | NPHS2 | c.113G>A (p.Arg38His) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575761_179575829del | CA2649317014 | NPHS2 | c.45_113del (p.Gly16_Arg38del) | gnomAD v4 |
1 | g.179575753G>A | CA343553791 | NPHS2 | c.112C>T (p.Arg38Cys) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575753G>C | CA343553796 | NPHS2 | c.112C>G (p.Arg38Gly) | dbSNP gnomAD v4 |
1 | g.179575753G= | CA1210326713 | NPHS2 | c.112C= (p.Arg38=) | |
1 | g.179575753G>T | CA1267319 | NPHS2 | c.112C>A (p.Arg38Ser) | dbSNP ExAC gnomAD v4 |
1 | g.179575754C>A | CA421997246 | NPHS2 | c.111G>T (p.Gly37=) | gnomAD v4 |
1 | g.179575754C= | CA1210326714 | NPHS2 | c.111G= (p.Gly37=) | |
1 | g.179575754C>G | CA421997239 | NPHS2 | c.111G>C (p.Gly37=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
1 | g.179575754C>T | CA421997243 | NPHS2 | c.111G>A (p.Gly37=) | ClinVar dbSNP gnomAD v4 |
1 | g.179575756dup | CA1267320 | NPHS2 | c.111dup (p.Arg38AlafsTer?) | dbSNP ExAC |
1 | g.179575755C>A | CA1267321 | NPHS2 | c.110G>T (p.Gly37Val) | dbSNP ExAC |
1 | g.179575755C= | CA1210326715 | NPHS2 | c.110G= (p.Gly37=) | |
1 | g.179575755C>G | CA343553804 | NPHS2 | c.110G>C (p.Gly37Ala) | |
1 | g.179575755C>T | CA33654054 | NPHS2 | c.110G>A (p.Gly37Glu) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575756C>A | CA1267322 | NPHS2 | c.109G>T (p.Gly37Trp) | dbSNP ExAC gnomAD v4 |
1 | g.179575756C= | CA1210326716 | NPHS2 | c.109G= (p.Gly37=) | |
1 | g.179575756C>G | CA343553807 | NPHS2 | c.109G>C (p.Gly37Arg) | gnomAD v4 |
1 | g.179575756C>T | CA1267323 | NPHS2 | c.109G>A (p.Gly37Arg) | dbSNP ExAC gnomAD v2 gnomAD v4 |
1 | g.179575757G>A | CA421997277 | NPHS2 | c.108C>T (p.Arg36=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575757G>C | CA421997280 | NPHS2 | c.108C>G (p.Arg36=) | |
1 | g.179575757G= | CA1210326717 | NPHS2 | c.108C= (p.Arg36=) | |
1 | g.179575757G>T | CA1267324 | NPHS2 | c.108C>A (p.Arg36=) | dbSNP ExAC gnomAD v4 |
1 | g.179575758C>A | CA343553814 | NPHS2 | c.107G>T (p.Arg36Leu) | gnomAD v4 |
1 | g.179575758C= | CA1210326718 | NPHS2 | c.107G= (p.Arg36=) | |
1 | g.179575758C>G | CA343553809 | NPHS2 | c.107G>C (p.Arg36Pro) | gnomAD v4 |
1 | g.179575758C>T | CA1267325 | NPHS2 | c.107G>A (p.Arg36His) | dbSNP ExAC gnomAD v4 |
1 | g.179575759G>A | CA343553820 | NPHS2 | c.106C>T (p.Arg36Cys) | gnomAD v4 |
1 | g.179575759G>C | CA343553826 | NPHS2 | c.106C>G (p.Arg36Gly) | gnomAD v4 |
1 | g.179575759G= | CA1210326719 | NPHS2 | c.106C= (p.Arg36=) | |
1 | g.179575759G>T | CA1267326 | NPHS2 | c.106C>A (p.Arg36Ser) | dbSNP ExAC gnomAD v4 |
1 | g.179575760del | CA2649317015 | NPHS2 | c.106del (p.Arg36AlafsTer?) | gnomAD v4 |
1 | g.179575761_179575830del | CA2649317016 | NPHS2 | c.37_106del (p.Arg13AlafsTer?) | gnomAD v4 |
1 | g.179575760G>A | CA421997313 | NPHS2 | c.105C>T (p.Gly35=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
1 | g.179575760G>C | CA33654061 | NPHS2 | c.105C>G (p.Gly35=) | dbSNP gnomAD v2 gnomAD v4 |
1 | g.179575760G= | CA1210326720 | NPHS2 | c.105C= (p.Gly35=) | |
1 | g.179575760G>T | CA421997317 | NPHS2 | c.105C>A (p.Gly35=) | 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 |