| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.179575598_179575610del | CA2582342426 | NPHS2 | c.258_270del (p.Ser86ArgfsTer9) c.258_270del (p.Ser86ArgfsTer?) | ClinVar |
| 1 | g.179575600_179575601del | CA2586967766 | NPHS2 | c.264_265del (p.Pro89ArgfsTer13) c.264_265del (p.Pro89ArgfsTer18) | |
| 1 | g.179575600_179575601delinsGC | CA1210326630 | NPHS2 | c.264_265delinsGC (p.Arg88=) | |
| 1 | g.179575601C>A | CA421995502 | NPHS2 | c.264G>T (p.Arg88=) | gnomAD v4 |
| 1 | g.179575601C= | CA1210326631 | NPHS2 | c.264G= (p.Arg88=) | |
| 1 | g.179575601C>G | CA421995499 | NPHS2 | c.264G>C (p.Arg88=) | |
| 1 | g.179575601C>T | CA421995497 | NPHS2 | c.264G>A (p.Arg88=) | dbSNP gnomAD v4 |
| 1 | g.179575602del | CA1267286 | NPHS2 | c.264del (p.Glu90ArgfsTer9) c.264del (p.Glu90ArgfsTer?) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179575602C>A | CA343552545 | NPHS2 | c.263G>T (p.Arg88Leu) | |
| 1 | g.179575602C= | CA1210326632 | NPHS2 | c.263G= (p.Arg88=) | |
| 1 | g.179575602C>G | CA343552547 | NPHS2 | c.263G>C (p.Arg88Pro) | |
| 1 | g.179575602C>T | CA343552549 | NPHS2 | c.263G>A (p.Arg88Gln) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179575603G>A | CA343552553 | NPHS2 | c.262C>T (p.Arg88Trp) | gnomAD v4 COSMIC |
| 1 | g.179575603G>C | CA343552555 | NPHS2 | c.262C>G (p.Arg88Gly) | gnomAD v4 |
| 1 | g.179575603G= | CA1210326633 | NPHS2 | c.262C= (p.Arg88=) | |
| 1 | g.179575603G>T | CA421995539 | NPHS2 | c.262C>A (p.Arg88=) | dbSNP gnomAD v4 |
| 1 | g.179575604C>A | CA343552573 | NPHS2 | c.261G>T (p.Glu87Asp) | |
| 1 | g.179575604C>G | CA343552557 | NPHS2 | c.261G>C (p.Glu87Asp) | |
| 1 | g.179575604C>T | CA421995542 | NPHS2 | c.261G>A (p.Glu87=) | gnomAD v4 |
| 1 | g.179575605T>A | CA343552582 | NPHS2 | c.260A>T (p.Glu87Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575605T>C | CA343552584 | NPHS2 | c.260A>G (p.Glu87Gly) | gnomAD v4 |
| 1 | g.179575605T>G | CA343552588 | NPHS2 | c.260A>C (p.Glu87Ala) | |
| 1 | g.179575605T= | CA1210326634 | NPHS2 | c.260A= (p.Glu87=) | |
| 1 | g.179575606C>A | CA343552591 | NPHS2 | c.259G>T (p.Glu87Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.179575606C= | CA1210326635 | NPHS2 | c.259G= (p.Glu87=) | |
| 1 | g.179575606C>G | CA1267288 | NPHS2 | c.259G>C (p.Glu87Gln) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575606C>T | CA1267287 | NPHS2 | c.259G>A (p.Glu87Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575607G>A | CA33653768 | NPHS2 | c.258C>T (p.Ser86=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575607G>C | CA343552605 | NPHS2 | c.258C>G (p.Ser86Arg) | gnomAD v4 |
| 1 | g.179575607G= | CA1210326636 | NPHS2 | c.258C= (p.Ser86=) | |
| 1 | g.179575607G>T | CA343552610 | NPHS2 | c.258C>A (p.Ser86Arg) | gnomAD v4 |
| 1 | g.179575608C>A | CA343552615 | NPHS2 | c.257G>T (p.Ser86Ile) | gnomAD v4 |
| 1 | g.179575608C>G | CA343552617 | NPHS2 | c.257G>C (p.Ser86Thr) | |
| 1 | g.179575608C>T | CA343552619 | NPHS2 | c.257G>A (p.Ser86Asn) | gnomAD v4 |
| 1 | g.179575609T>A | CA343552620 | NPHS2 | c.256A>T (p.Ser86Cys) | |
| 1 | g.179575609T>C | CA343552623 | NPHS2 | c.256A>G (p.Ser86Gly) | gnomAD v4 |
| 1 | g.179575609T>G | CA343552626 | NPHS2 | c.256A>C (p.Ser86Arg) | |
| 1 | g.179575610C>A | CA343552637 | NPHS2 | c.255G>T (p.Glu85Asp) | gnomAD v4 |
| 1 | g.179575610C>G | CA343552634 | NPHS2 | c.255G>C (p.Glu85Asp) | |
| 1 | g.179575610C>T | CA421995637 | NPHS2 | c.255G>A (p.Glu85=) | COSMIC |
| 1 | g.179575611T>A | CA343552649 | NPHS2 | c.254A>T (p.Glu85Val) | |
| 1 | g.179575611T>C | CA343552651 | NPHS2 | c.254A>G (p.Glu85Gly) | gnomAD v4 |
| 1 | g.179575611T>G | CA343552653 | NPHS2 | c.254A>C (p.Glu85Ala) | |
| 1 | g.179575612C>A | CA343552658 | NPHS2 | c.253G>T (p.Glu85Ter) | |
| 1 | g.179575612C= | CA1210326637 | NPHS2 | c.253G= (p.Glu85=) | |
| 1 | g.179575612C>G | CA343552661 | NPHS2 | c.253G>C (p.Glu85Gln) | gnomAD v4 |
| 1 | g.179575612C>T | CA1267289 | NPHS2 | c.253G>A (p.Glu85Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179575613dup | CA2746821921 | NPHS2 | c.253dup (p.Glu85GlyfsTer18) c.253dup (p.Glu85GlyfsTer23) | |
| 1 | g.179575613C>A | CA343552669 | NPHS2 | c.252G>T (p.Leu84Phe) | |
| 1 | g.179575613C>G | CA343552671 | NPHS2 | c.252G>C (p.Leu84Phe) | |
| 1 | g.179575613C>T | CA421995657 | NPHS2 | c.252G>A (p.Leu84=) | gnomAD v4 |
| 1 | g.179575614A>C | CA343552673 | NPHS2 | c.251T>G (p.Leu84Trp) | |
| 1 | g.179575614A>G | CA343552678 | NPHS2 | c.251T>C (p.Leu84Ser) | gnomAD v4 |
| 1 | g.179575614A>T | CA343552682 | NPHS2 | c.251T>A (p.Leu84Ter) | |
| 1 | g.179575615A= | CA1210326639 | NPHS2 | c.250T= (p.Leu84=) | |
| 1 | g.179575615A>C | CA343552684 | NPHS2 | c.250T>G (p.Leu84Val) | dbSNP |
| 1 | g.179575615A>G | CA421995675 | NPHS2 | c.250T>C (p.Leu84=) | gnomAD v4 |
| 1 | g.179575615A>T | CA343552688 | NPHS2 | c.250T>A (p.Leu84Met) | |
| 1 | g.179575615_179575616delinsAC | CA1210326638 | NPHS2 | c.249_250delinsGT (p.Leu83=) | |
| 1 | g.179575616_179575617del | CA913071833 | NPHS2 | c.249_250del (p.Leu84GlyfsTer18) c.249_250del (p.Leu84GlyfsTer23) | |
| 1 | g.179575616del | CA658822855 | NPHS2 | c.249del (p.Leu84TrpfsTer15) c.249del (p.Leu84TrpfsTer?) | ClinVar dbSNP |
| 1 | g.179575616C>A | CA421995685 | NPHS2 | c.249G>T (p.Leu83=) | |
| 1 | g.179575616C= | CA1210326640 | NPHS2 | c.249G= (p.Leu83=) | |
| 1 | g.179575616C>G | CA421995688 | NPHS2 | c.249G>C (p.Leu83=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575616C>T | CA421995690 | NPHS2 | c.249G>A (p.Leu83=) | gnomAD v4 |
| 1 | g.179575617A>C | CA343552696 | NPHS2 | c.248T>G (p.Leu83Arg) | |
| 1 | g.179575617A>G | CA343552694 | NPHS2 | c.248T>C (p.Leu83Pro) | gnomAD v4 |
| 1 | g.179575617A>T | CA343552691 | NPHS2 | c.248T>A (p.Leu83Gln) | |
| 1 | g.179575618G>A | CA421995709 | NPHS2 | c.247C>T (p.Leu83=) | |
| 1 | g.179575618G>C | CA343552699 | NPHS2 | c.247C>G (p.Leu83Val) | |
| 1 | g.179575618G>T | CA343552704 | NPHS2 | c.247C>A (p.Leu83Met) | gnomAD v4 |
| 1 | g.179575619C>A | CA421995721 | NPHS2 | c.246G>T (p.Ala82=) | ClinVar gnomAD v4 |
| 1 | g.179575619C>G | CA421995726 | NPHS2 | c.246G>C (p.Ala82=) | |
| 1 | g.179575619C>T | CA421995725 | NPHS2 | c.246G>A (p.Ala82=) | gnomAD v4 |
| 1 | g.179575620G>A | CA343552715 | NPHS2 | c.245C>T (p.Ala82Val) | gnomAD v4 |
| 1 | g.179575620G>C | CA343552717 | NPHS2 | c.245C>G (p.Ala82Gly) | |
| 1 | g.179575620G>T | CA343552729 | NPHS2 | c.245C>A (p.Ala82Glu) | gnomAD v4 |
| 1 | g.179575621C>A | CA343552733 | NPHS2 | c.244G>T (p.Ala82Ser) | |
| 1 | g.179575621C= | CA1210326641 | NPHS2 | c.244G= (p.Ala82=) | |
| 1 | g.179575621C>G | CA343552734 | NPHS2 | c.244G>C (p.Ala82Pro) | |
| 1 | g.179575621C>T | CA33653779 | NPHS2 | c.244G>A (p.Ala82Thr) | dbSNP |
| 1 | g.179575622del | CA2580061516 | NPHS2 | c.244del (p.Ala82ArgfsTer17) c.244del (p.Ala82ArgfsTer?) | ClinVar |
| 1 | g.179575622C>A | CA421995742 | NPHS2 | c.243G>T (p.Val81=) | gnomAD v4 |
| 1 | g.179575622C>G | CA421995749 | NPHS2 | c.243G>C (p.Val81=) | |
| 1 | g.179575622C>T | CA421995750 | NPHS2 | c.243G>A (p.Val81=) | |
| 1 | g.179575623A= | CA1210326642 | NPHS2 | c.242T= (p.Val81=) | |
| 1 | g.179575623A>C | CA343552735 | NPHS2 | c.242T>G (p.Val81Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575623A>G | CA343552738 | NPHS2 | c.242T>C (p.Val81Ala) | |
| 1 | g.179575623A>T | CA343552741 | NPHS2 | c.242T>A (p.Val81Glu) | |
| 1 | g.179575624C>A | CA343552742 | NPHS2 | c.241G>T (p.Val81Leu) | |
| 1 | g.179575624C>G | CA343552743 | NPHS2 | c.241G>C (p.Val81Leu) | |
| 1 | g.179575624C>T | CA343552744 | NPHS2 | c.241G>A (p.Val81Met) | |
| 1 | g.179575625C>A | CA421995773 | NPHS2 | c.240G>T (p.Val80=) | |
| 1 | g.179575625C= | CA1210326643 | NPHS2 | c.240G= (p.Val80=) | |
| 1 | g.179575625C>G | CA421995780 | NPHS2 | c.240G>C (p.Val80=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179575625C>T | CA421995783 | NPHS2 | c.240G>A (p.Val80=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.179575626A>C | CA343552749 | NPHS2 | c.239T>G (p.Val80Gly) | |
| 1 | g.179575626A>G | CA343552745 | NPHS2 | c.239T>C (p.Val80Ala) | |
| 1 | g.179575626A>T | CA343552747 | NPHS2 | c.239T>A (p.Val80Glu) | |
| 1 | g.179575627C>A | CA343552755 | NPHS2 | c.238G>T (p.Val80Leu) | |
| 1 | g.179575627C>G | CA343552763 | NPHS2 | c.238G>C (p.Val80Leu) | |
| 1 | g.179575627C>T | CA343552766 | NPHS2 | c.238G>A (p.Val80Met) | gnomAD v4 |
| 1 | g.179575628C>A | CA343552769 | NPHS2 | c.237G>T (p.Glu79Asp) | gnomAD v4 |
| 1 | g.179575628C>G | CA343552773 | NPHS2 | c.237G>C (p.Glu79Asp) | |
| 1 | g.179575628C>T | CA421995819 | NPHS2 | c.237G>A (p.Glu79=) | |
| 1 | g.179575629T>A | CA343552777 | NPHS2 | c.236A>T (p.Glu79Val) | |
| 1 | g.179575629T>C | CA343552780 | NPHS2 | c.236A>G (p.Glu79Gly) | |
| 1 | g.179575629T>G | CA343552783 | NPHS2 | c.236A>C (p.Glu79Ala) | |
| 1 | g.179575630C>A | CA343552789 | NPHS2 | c.235G>T (p.Glu79Ter) | gnomAD v4 |
| 1 | g.179575630C= | CA1210326644 | NPHS2 | c.235G= (p.Glu79=) | |
| 1 | g.179575630C>G | CA343552792 | NPHS2 | c.235G>C (p.Glu79Gln) | |
| 1 | g.179575630C>T | CA1267290 | NPHS2 | c.235G>A (p.Glu79Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179575631G>A | CA421995835 | NPHS2 | c.234C>T (p.Thr78=) | |
| 1 | g.179575631G>C | CA421995838 | NPHS2 | c.234C>G (p.Thr78=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575631G= | CA1210326645 | NPHS2 | c.234C= (p.Thr78=) | |
| 1 | g.179575631G>T | CA421995840 | NPHS2 | c.234C>A (p.Thr78=) | gnomAD v4 |
| 1 | g.179575632G>A | CA343552801 | NPHS2 | c.233C>T (p.Thr78Ile) | gnomAD v4 |
| 1 | g.179575632G>C | CA343552803 | NPHS2 | c.233C>G (p.Thr78Ser) | gnomAD v4 |
| 1 | g.179575632G>T | CA343552797 | NPHS2 | c.233C>A (p.Thr78Asn) | gnomAD v4 |
| 1 | g.179575633T>A | CA343552806 | NPHS2 | c.232A>T (p.Thr78Ser) | gnomAD v4 |
| 1 | g.179575633T>C | CA343552808 | NPHS2 | c.232A>G (p.Thr78Ala) | gnomAD v4 |
| 1 | g.179575633T>G | CA343552811 | NPHS2 | c.232A>C (p.Thr78Pro) | |
| 1 | g.179575634G>A | CA33653793 | NPHS2 | c.231C>T (p.Gly77=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575634G>C | CA421995865 | NPHS2 | c.231C>G (p.Gly77=) | |
| 1 | g.179575634G= | CA1210326646 | NPHS2 | c.231C= (p.Gly77=) | |
| 1 | g.179575634G>T | CA421995867 | NPHS2 | c.231C>A (p.Gly77=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.179575634_179575635delinsGC | CA1210326647 | NPHS2 | c.230_231delinsGC (p.Gly77=) | |
| 1 | g.179575635C>A | CA343552814 | NPHS2 | c.230G>T (p.Gly77Val) | gnomAD v4 |
| 1 | g.179575635C>G | CA343552815 | NPHS2 | c.230G>C (p.Gly77Ala) | |
| 1 | g.179575635C>T | CA343552816 | NPHS2 | c.230G>A (p.Gly77Asp) | gnomAD v4 |
| 1 | g.179575637del | CA1210326648 | NPHS2 | c.230del (p.Gly77AlafsTer22) c.230del (p.Gly77AlafsTer?) | dbSNP |
| 1 | g.179575635_179575638delinsCCCT | CA1210326649 | NPHS2 | c.227_230delinsAGGG (p.Glu76=) | |
| 1 | g.179575636C>A | CA343552818 | NPHS2 | c.229G>T (p.Gly77Cys) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179575636C= | CA1210326650 | NPHS2 | c.229G= (p.Gly77=) | |
| 1 | g.179575636C>G | CA343552820 | NPHS2 | c.229G>C (p.Gly77Arg) | |
| 1 | g.179575636C>T | CA343552823 | NPHS2 | c.229G>A (p.Gly77Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575640_179575642del | CA1267291 | NPHS2 | c.227_229del (p.Glu76del) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179575637C>A | CA343552829 | NPHS2 | c.228G>T (p.Glu76Asp) | gnomAD v4 |
| 1 | g.179575637C= | CA1210326651 | NPHS2 | c.228G= (p.Glu76=) | |
| 1 | g.179575637C>G | CA343552832 | NPHS2 | c.228G>C (p.Glu76Asp) | |
| 1 | g.179575637C>T | CA421995905 | NPHS2 | c.228G>A (p.Glu76=) | dbSNP gnomAD v4 |
| 1 | g.179575638T>A | CA343552838 | NPHS2 | c.227A>T (p.Glu76Val) | |
| 1 | g.179575638T>C | CA343552837 | NPHS2 | c.227A>G (p.Glu76Gly) | gnomAD v4 |
| 1 | g.179575638T>G | CA343552835 | NPHS2 | c.227A>C (p.Glu76Ala) | |
| 1 | g.179575639C>A | CA343552840 | NPHS2 | c.226G>T (p.Glu76Ter) | dbSNP gnomAD v4 |
| 1 | g.179575639C= | CA1210326652 | NPHS2 | c.226G= (p.Glu76=) | |
| 1 | g.179575639C>G | CA343552843 | NPHS2 | c.226G>C (p.Glu76Gln) | |
| 1 | g.179575639C>T | CA343552846 | NPHS2 | c.226G>A (p.Glu76Lys) | |
| 1 | g.179575640C>A | CA343552847 | NPHS2 | c.225G>T (p.Glu75Asp) | |
| 1 | g.179575640C>G | CA343552850 | NPHS2 | c.225G>C (p.Glu75Asp) | |
| 1 | g.179575640C>T | CA421995923 | NPHS2 | c.225G>A (p.Glu75=) | |
| 1 | g.179575641T>A | CA343552869 | NPHS2 | c.224A>T (p.Glu75Val) | |
| 1 | g.179575641T>C | CA343552871 | NPHS2 | c.224A>G (p.Glu75Gly) | |
| 1 | g.179575641T>G | CA343552887 | NPHS2 | c.224A>C (p.Glu75Ala) | |
| 1 | g.179575642C>A | CA343552891 | NPHS2 | c.223G>T (p.Glu75Ter) | gnomAD v4 |
| 1 | g.179575642C= | CA1210326653 | NPHS2 | c.223G= (p.Glu75=) | |
| 1 | g.179575642C>G | CA343552893 | NPHS2 | c.223G>C (p.Glu75Gln) | |
| 1 | g.179575642C>T | CA1267292 | NPHS2 | c.223G>A (p.Glu75Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.179575643G>A | CA421995958 | NPHS2 | c.222C>T (p.Gly74=) | dbSNP gnomAD v4 |
| 1 | g.179575643G>C | CA421995957 | NPHS2 | c.222C>G (p.Gly74=) | |
| 1 | g.179575643G>T | CA421995953 | NPHS2 | c.222C>A (p.Gly74=) | gnomAD v4 |
| 1 | g.179575644C>A | CA343552902 | NPHS2 | c.221G>T (p.Gly74Val) | gnomAD v4 |
| 1 | g.179575644C= | CA1142274367 | NPHS2 | c.221G= (p.Gly74=) | |
| 1 | g.179575644C>G | CA343552906 | NPHS2 | c.221G>C (p.Gly74Ala) | |
| 1 | g.179575644C>T | CA1267293 | NPHS2 | c.221G>A (p.Gly74Asp) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 1 | g.179575645C>A | CA343552910 | NPHS2 | c.220G>T (p.Gly74Cys) | |
| 1 | g.179575645C= | CA1143424947 | NPHS2 | c.220G= (p.Gly74=) | |
| 1 | g.179575645C>G | CA343552914 | NPHS2 | c.220G>C (p.Gly74Arg) | dbSNP |
| 1 | g.179575645C>T | CA1267294 | NPHS2 | c.220G>A (p.Gly74Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 1 | g.179575646G>A | CA1267295 | NPHS2 | c.219C>T (p.Ser73=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575646G>C | CA421996005 | NPHS2 | c.219C>G (p.Ser73=) | |
| 1 | g.179575646G= | CA1210326654 | NPHS2 | c.219C= (p.Ser73=) | |
| 1 | g.179575646G>T | CA421996002 | NPHS2 | c.219C>A (p.Ser73=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575647G>A | CA343552918 | NPHS2 | c.218C>T (p.Ser73Phe) | gnomAD v4 |
| 1 | g.179575647G>C | CA343552924 | NPHS2 | c.218C>G (p.Ser73Cys) | gnomAD v4 |
| 1 | g.179575647G>T | CA343552920 | NPHS2 | c.218C>A (p.Ser73Tyr) | gnomAD v4 |
| 1 | g.179575648A>C | CA343552929 | NPHS2 | c.217T>G (p.Ser73Ala) | |
| 1 | g.179575648A>G | CA343552934 | NPHS2 | c.217T>C (p.Ser73Pro) | |
| 1 | g.179575648A>T | CA343552931 | NPHS2 | c.217T>A (p.Ser73Thr) | |
| 1 | g.179575649G>A | CA421996037 | NPHS2 | c.216C>T (p.Gly72=) | dbSNP |
| 1 | g.179575649G>C | CA421996039 | NPHS2 | c.216C>G (p.Gly72=) | |
| 1 | g.179575649G= | CA1210326655 | NPHS2 | c.216C= (p.Gly72=) | |
| 1 | g.179575649G>T | CA421996042 | NPHS2 | c.216C>A (p.Gly72=) | gnomAD v4 |
| 1 | g.179575650C>A | CA343552938 | NPHS2 | c.215G>T (p.Gly72Val) | gnomAD v4 |
| 1 | g.179575650C>G | CA343552945 | NPHS2 | c.215G>C (p.Gly72Ala) | |
| 1 | g.179575650C>T | CA343552942 | NPHS2 | c.215G>A (p.Gly72Asp) | gnomAD v4 |
| 1 | g.179575651C>A | CA343552947 | NPHS2 | c.214G>T (p.Gly72Cys) | gnomAD v4 |
| 1 | g.179575651C>G | CA343552948 | NPHS2 | c.214G>C (p.Gly72Arg) | |
| 1 | g.179575651C>T | CA343552949 | NPHS2 | c.214G>A (p.Gly72Ser) | |
| 1 | g.179575652T>A | CA421996063 | NPHS2 | c.213A>T (p.Arg71=) | |
| 1 | g.179575652T>C | CA421996068 | NPHS2 | c.213A>G (p.Arg71=) | gnomAD v4 |
| 1 | g.179575652T>G | CA421996071 | NPHS2 | c.213A>C (p.Arg71=) | |
| 1 | g.179575653C>A | CA343552950 | NPHS2 | c.212G>T (p.Arg71Leu) | |
| 1 | g.179575653C= | CA1210326656 | NPHS2 | c.212G= (p.Arg71=) | |
| 1 | g.179575653C>G | CA343552951 | NPHS2 | c.212G>C (p.Arg71Pro) | |
| 1 | g.179575653C>T | CA343552952 | NPHS2 | c.212G>A (p.Arg71Gln) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575654G>A | CA343552954 | NPHS2 | c.211C>T (p.Arg71Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575654G>C | CA343552956 | NPHS2 | c.211C>G (p.Arg71Gly) | |
| 1 | g.179575654G= | CA1210326657 | NPHS2 | c.211C= (p.Arg71=) | |
| 1 | g.179575654G>T | CA421996114 | NPHS2 | c.211C>A (p.Arg71=) | gnomAD v4 |
| 1 | g.179575654_179575655dup | CA2746821922 | NPHS2 | c.210_211dup (p.Arg71ProfsTer29) c.210_211dup (p.Arg71ProfsTer?) | |
| 1 | g.179575655G>A | CA421996120 | NPHS2 | c.210C>T (p.Val70=) | |
| 1 | g.179575655G>C | CA421996123 | NPHS2 | c.210C>G (p.Val70=) | |
| 1 | g.179575655G>T | CA421996126 | NPHS2 | c.210C>A (p.Val70=) | gnomAD v4 |
| 1 | g.179575656A>C | CA343552957 | NPHS2 | c.209T>G (p.Val70Gly) | |
| 1 | g.179575656A>G | CA343552959 | NPHS2 | c.209T>C (p.Val70Ala) | gnomAD v4 |
| 1 | g.179575656A>T | CA343552961 | NPHS2 | c.209T>A (p.Val70Asp) | |
| 1 | g.179575657C>A | CA343552979 | NPHS2 | c.208G>T (p.Val70Phe) | |
| 1 | g.179575657C= | CA1210326658 | NPHS2 | c.208G= (p.Val70=) | |
| 1 | g.179575657C>G | CA343552967 | NPHS2 | c.208G>C (p.Val70Leu) | |
| 1 | g.179575657C>T | CA1267296 | NPHS2 | c.208G>A (p.Val70Ile) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179575658C>A | CA343552984 | NPHS2 | c.207G>T (p.Glu69Asp) | |
| 1 | g.179575658C= | CA1210326659 | NPHS2 | c.207G= (p.Glu69=) | |
| 1 | g.179575658C>G | CA343552987 | NPHS2 | c.207G>C (p.Glu69Asp) | gnomAD v4 |
| 1 | g.179575658C>T | CA421996161 | NPHS2 | c.207G>A (p.Glu69=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179575659T>A | CA1267297 | NPHS2 | c.206A>T (p.Glu69Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179575659T>C | CA343552994 | NPHS2 | c.206A>G (p.Glu69Gly) | gnomAD v4 COSMIC |
| 1 | g.179575659T>G | CA343552998 | NPHS2 | c.206A>C (p.Glu69Ala) | |
| 1 | g.179575659T= | CA1210326660 | NPHS2 | c.206A= (p.Glu69=) | |
| 1 | g.179575660C>A | CA343553001 | NPHS2 | c.205G>T (p.Glu69Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575660C= | CA1210326661 | NPHS2 | c.205G= (p.Glu69=) | |
| 1 | g.179575660C>G | CA343553003 | NPHS2 | c.205G>C (p.Glu69Gln) | |
| 1 | g.179575660C>T | CA343553005 | NPHS2 | c.205G>A (p.Glu69Lys) | gnomAD v4 |
| 1 | g.179575661A>C | CA343553008 | NPHS2 | c.204T>G (p.Asp68Glu) | |
| 1 | g.179575661A>G | CA421996189 | NPHS2 | c.204T>C (p.Asp68=) | |
| 1 | g.179575661A>T | CA343553011 | NPHS2 | c.204T>A (p.Asp68Glu) | |
| 1 | g.179575662T>A | CA343553024 | NPHS2 | c.203A>T (p.Asp68Val) | |
| 1 | g.179575662T>C | CA343553020 | NPHS2 | c.203A>G (p.Asp68Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575662T>G | CA343553014 | NPHS2 | c.203A>C (p.Asp68Ala) | |
| 1 | g.179575662T= | CA1210326662 | NPHS2 | c.203A= (p.Asp68=) | |
| 1 | g.179575663C>A | CA343553028 | NPHS2 | c.202G>T (p.Asp68Tyr) | |
| 1 | g.179575663C>G | CA343553030 | NPHS2 | c.202G>C (p.Asp68His) | |
| 1 | g.179575663C>T | CA343553033 | NPHS2 | c.202G>A (p.Asp68Asn) | |
| 1 | g.179575664C>A | CA421996214 | NPHS2 | c.201G>T (p.Val67=) | gnomAD v4 |
| 1 | g.179575664C>G | CA421996217 | NPHS2 | c.201G>C (p.Val67=) | |
| 1 | g.179575664C>T | CA421996221 | NPHS2 | c.201G>A (p.Val67=) | |
| 1 | g.179575665A>C | CA343553035 | NPHS2 | c.200T>G (p.Val67Gly) | |
| 1 | g.179575665A>G | CA343553040 | NPHS2 | c.200T>C (p.Val67Ala) | |
| 1 | g.179575665A>T | CA343553045 | NPHS2 | c.200T>A (p.Val67Glu) | |
| 1 | g.179575666C>A | CA343553048 | NPHS2 | c.199G>T (p.Val67Leu) | |
| 1 | g.179575666C= | CA1210326663 | NPHS2 | c.199G= (p.Val67=) | |
| 1 | g.179575666C>G | CA343553051 | NPHS2 | c.199G>C (p.Val67Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575666C>T | CA343553055 | NPHS2 | c.199G>A (p.Val67Met) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179575667G>A | CA421996232 | NPHS2 | c.198C>T (p.Asp66=) | gnomAD v4 |
| 1 | g.179575667G>C | CA343553062 | NPHS2 | c.198C>G (p.Asp66Glu) | |
| 1 | g.179575667G= | CA1210326664 | NPHS2 | c.198C= (p.Asp66=) | |
| 1 | g.179575667G>T | CA343553066 | NPHS2 | c.198C>A (p.Asp66Glu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575668T>A | CA343553081 | NPHS2 | c.197A>T (p.Asp66Val) | |
| 1 | g.179575668T>C | CA343553078 | NPHS2 | c.197A>G (p.Asp66Gly) | gnomAD v4 |
| 1 | g.179575668T>G | CA343553075 | NPHS2 | c.197A>C (p.Asp66Ala) | |
| 1 | g.179575668_179575671del | CA913071834 | NPHS2 | c.194_197del (p.Val65AlafsTer?) | |
| 1 | g.179575668_179575671delinsTCCA | CA1210326665 | NPHS2 | c.194_197delinsTGGA (p.Val65=) | |
| 1 | g.179575669C>A | CA343553082 | NPHS2 | c.196G>T (p.Asp66Tyr) | gnomAD v4 |
| 1 | g.179575669C= | CA1210326666 | NPHS2 | c.196G= (p.Asp66=) | |
| 1 | g.179575669C>G | CA343553085 | NPHS2 | c.196G>C (p.Asp66His) | |
| 1 | g.179575669C>T | CA1267298 | NPHS2 | c.196G>A (p.Asp66Asn) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179575670del | CA2649317005 | NPHS2 | c.196del (p.Asp66ThrfsTer?) | gnomAD v4 |
| 1 | g.179575674_179575676del | CA658822856 | NPHS2 | c.194_196del (p.Val65del) | ClinVar dbSNP |
| 1 | g.179575670C>A | CA421996255 | NPHS2 | c.195G>T (p.Val65=) | |
| 1 | g.179575670C>G | CA421996256 | NPHS2 | c.195G>C (p.Val65=) | |
| 1 | g.179575670C>T | CA421996257 | NPHS2 | c.195G>A (p.Val65=) | |
| 1 | g.179575671A>C | CA343553088 | NPHS2 | c.194T>G (p.Val65Gly) | |
| 1 | g.179575671A>G | CA343553092 | NPHS2 | c.194T>C (p.Val65Ala) | gnomAD v4 |
| 1 | g.179575671A>T | CA343553095 | NPHS2 | c.194T>A (p.Val65Glu) | |
| 1 | g.179575672C>A | CA343553106 | NPHS2 | c.193G>T (p.Val65Leu) | |
| 1 | g.179575672C= | CA1210326667 | NPHS2 | c.193G= (p.Val65=) | |
| 1 | g.179575672C>G | CA343553109 | NPHS2 | c.193G>C (p.Val65Leu) | |
| 1 | g.179575672C>T | CA343553112 | NPHS2 | c.193G>A (p.Val65Met) | dbSNP gnomAD v4 |
| 1 | g.179575673_179575674insCCCCCCCAAACACACCC | CA2746821924 | NPHS2 | c.193_194insGTGTGTTTGGGGGGGGG (p.Val65GlyfsTer?) | |
| 1 | g.179575673C>A | CA421996275 | NPHS2 | c.192G>T (p.Val64=) | |
| 1 | g.179575673C>G | CA421996283 | NPHS2 | c.192G>C (p.Val64=) | |
| 1 | g.179575673C>T | CA421996278 | NPHS2 | c.192G>A (p.Val64=) | |
| 1 | g.179575674_179575675del | CA2582342427 | NPHS2 | c.191_192del (p.Val64GlyfsTer5) | ClinVar |
| 1 | g.179575674A>C | CA343553122 | NPHS2 | c.191T>G (p.Val64Gly) | |
| 1 | g.179575674A>G | CA343553124 | NPHS2 | c.191T>C (p.Val64Ala) | |
| 1 | g.179575674A>T | CA343553137 | NPHS2 | c.191T>A (p.Val64Glu) | |
| 1 | g.179575675C>A | CA343553146 | NPHS2 | c.190G>T (p.Val64Leu) | |
| 1 | g.179575675C= | CA1210326668 | NPHS2 | c.190G= (p.Val64=) | |
| 1 | g.179575675C>G | CA343553158 | NPHS2 | c.190G>C (p.Val64Leu) | |
| 1 | g.179575675C>T | CA343553142 | NPHS2 | c.190G>A (p.Val64Met) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575676C>A | CA421996309 | NPHS2 | c.189G>T (p.Thr63=) | gnomAD v4 |
| 1 | g.179575676C= | CA1210326669 | NPHS2 | c.189G= (p.Thr63=) | |
| 1 | g.179575676C>G | CA421996311 | NPHS2 | c.189G>C (p.Thr63=) | |
| 1 | g.179575676C>T | CA1267299 | NPHS2 | c.189G>A (p.Thr63=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575677G>A | CA343553167 | NPHS2 | c.188C>T (p.Thr63Met) | gnomAD v4 |
| 1 | g.179575677G>C | CA343553169 | NPHS2 | c.188C>G (p.Thr63Arg) | |
| 1 | g.179575677G>T | CA343553172 | NPHS2 | c.188C>A (p.Thr63Lys) | gnomAD v4 |
| 1 | g.179575678T>A | CA343553177 | NPHS2 | c.187A>T (p.Thr63Ser) | |
| 1 | g.179575678T>C | CA343553180 | NPHS2 | c.187A>G (p.Thr63Ala) | |
| 1 | g.179575678T>G | CA343553182 | NPHS2 | c.187A>C (p.Thr63Pro) | |
| 1 | g.179575679G>A | CA421996334 | NPHS2 | c.186C>T (p.Ala62=) | |
| 1 | g.179575679G>C | CA421996338 | NPHS2 | c.186C>G (p.Ala62=) | gnomAD v4 |
| 1 | g.179575679G>T | CA421996340 | NPHS2 | c.186C>A (p.Ala62=) | |
| 1 | g.179575680G>A | CA343553186 | NPHS2 | c.185C>T (p.Ala62Val) | |
| 1 | g.179575680G>C | CA343553188 | NPHS2 | c.185C>G (p.Ala62Gly) | |
| 1 | g.179575680G>T | CA343553192 | NPHS2 | c.185C>A (p.Ala62Asp) | gnomAD v4 |
| 1 | g.179575681C>A | CA343553194 | NPHS2 | c.184G>T (p.Ala62Ser) | dbSNP |
| 1 | g.179575681C= | CA1210326670 | NPHS2 | c.184G= (p.Ala62=) | |
| 1 | g.179575681C>G | CA343553196 | NPHS2 | c.184G>C (p.Ala62Pro) | |
| 1 | g.179575681C>T | CA343553199 | NPHS2 | c.184G>A (p.Ala62Thr) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575682G>A | CA421996377 | NPHS2 | c.183C>T (p.Ala61=) | |
| 1 | g.179575682G>C | CA421996392 | NPHS2 | c.183C>G (p.Ala61=) | |
| 1 | g.179575682G>T | CA421996401 | NPHS2 | c.183C>A (p.Ala61=) | gnomAD v4 |
| 1 | g.179575683G>A | CA1267300 | NPHS2 | c.182C>T (p.Ala61Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575683G>C | CA343553200 | NPHS2 | c.182C>G (p.Ala61Gly) | |
| 1 | g.179575683G= | CA1143458114 | NPHS2 | c.182C= (p.Ala61=) | |
| 1 | g.179575683G>T | CA343553201 | NPHS2 | c.182C>A (p.Ala61Asp) | gnomAD v4 |
| 1 | g.179575684C>A | CA343553203 | NPHS2 | c.181G>T (p.Ala61Ser) | |
| 1 | g.179575684C= | CA1210326671 | NPHS2 | c.181G= (p.Ala61=) | |
| 1 | g.179575684C>G | CA343553205 | NPHS2 | c.181G>C (p.Ala61Pro) | |
| 1 | g.179575684C>T | CA1267301 | NPHS2 | c.181G>A (p.Ala61Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575685G>A | CA421996431 | NPHS2 | c.180C>T (p.Pro60=) | gnomAD v4 |
| 1 | g.179575685G>C | CA421996434 | NPHS2 | c.180C>G (p.Pro60=) | |
| 1 | g.179575685G>T | CA421996438 | NPHS2 | c.180C>A (p.Pro60=) | |
| 1 | g.179575686G>A | CA343553213 | NPHS2 | c.179C>T (p.Pro60Leu) | |
| 1 | g.179575686G>C | CA343553214 | NPHS2 | c.179C>G (p.Pro60Arg) | |
| 1 | g.179575686G>T | CA343553218 | NPHS2 | c.179C>A (p.Pro60His) | gnomAD v4 |
| 1 | g.179575687G>A | CA343553220 | NPHS2 | c.178C>T (p.Pro60Ser) | |
| 1 | g.179575687G>C | CA343553221 | NPHS2 | c.178C>G (p.Pro60Ala) | |
| 1 | g.179575687G>T | CA343553222 | NPHS2 | c.178C>A (p.Pro60Thr) | gnomAD v4 |
| 1 | g.179575688C>A | CA421996480 | NPHS2 | c.177G>T (p.Ala59=) | ClinVar gnomAD v4 |
| 1 | g.179575688C= | CA1210326672 | NPHS2 | c.177G= (p.Ala59=) | |
| 1 | g.179575688C>G | CA421996483 | NPHS2 | c.177G>C (p.Ala59=) | |
| 1 | g.179575688C>T | CA421996486 | NPHS2 | c.177G>A (p.Ala59=) | dbSNP gnomAD v4 |
| 1 | g.179575689G>A | CA1267302 | NPHS2 | c.176C>T (p.Ala59Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575689G>C | CA343553226 | NPHS2 | c.176C>G (p.Ala59Gly) | |
| 1 | g.179575689G= | CA1143461553 | NPHS2 | c.176C= (p.Ala59=) | |
| 1 | g.179575689G>T | CA1267303 | NPHS2 | c.176C>A (p.Ala59Glu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575690C>A | CA343553235 | NPHS2 | c.175G>T (p.Ala59Ser) | gnomAD v4 |
| 1 | g.179575690C= | CA1210326673 | NPHS2 | c.175G= (p.Ala59=) | |
| 1 | g.179575690C>G | CA1267304 | NPHS2 | c.175G>C (p.Ala59Pro) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179575690C>T | CA343553233 | NPHS2 | c.175G>A (p.Ala59Thr) | |
| 1 | g.179575691T>A | CA421996523 | NPHS2 | c.174A>T (p.Arg58=) | |
| 1 | g.179575691T>C | CA421996526 | NPHS2 | c.174A>G (p.Arg58=) | gnomAD v4 |
| 1 | g.179575691T>G | CA421996529 | NPHS2 | c.174A>C (p.Arg58=) | |
| 1 | g.179575692C>A | CA343553241 | NPHS2 | c.173G>T (p.Arg58Leu) | |
| 1 | g.179575692C>G | CA343553245 | NPHS2 | c.173G>C (p.Arg58Pro) | |
| 1 | g.179575692C>T | CA343553256 | NPHS2 | c.173G>A (p.Arg58Gln) | gnomAD v4 |
| 1 | g.179575693G>A | CA343553260 | NPHS2 | c.172C>T (p.Arg58Ter) | gnomAD v4 |
| 1 | g.179575693G>C | CA343553262 | NPHS2 | c.172C>G (p.Arg58Gly) | gnomAD v4 |
| 1 | g.179575693G= | CA1210326674 | NPHS2 | c.172C= (p.Arg58=) | |
| 1 | g.179575693G>T | CA1267305 | NPHS2 | c.172C>A (p.Arg58=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179575696del | CA2649317006 | NPHS2 | c.172del (p.Arg58GlufsTer?) | gnomAD v4 |
| 1 | g.179575694G>A | CA421996550 | NPHS2 | c.171C>T (p.Pro57=) | gnomAD v4 |
| 1 | g.179575694G>C | CA421996553 | NPHS2 | c.171C>G (p.Pro57=) | |
| 1 | g.179575694G>T | CA421996558 | NPHS2 | c.171C>A (p.Pro57=) | |
| 1 | g.179575695G>A | CA343553271 | NPHS2 | c.170C>T (p.Pro57Leu) | |
| 1 | g.179575695G>C | CA343553266 | NPHS2 | c.170C>G (p.Pro57Arg) | |
| 1 | g.179575695G>T | CA343553268 | NPHS2 | c.170C>A (p.Pro57His) | gnomAD v4 |
| 1 | g.179575696G>A | CA343553273 | NPHS2 | c.169C>T (p.Pro57Ser) | gnomAD v4 |
| 1 | g.179575696G>C | CA343553277 | NPHS2 | c.169C>G (p.Pro57Ala) | |
| 1 | g.179575696G= | CA1210326675 | NPHS2 | c.169C= (p.Pro57=) | |
| 1 | g.179575696G>T | CA343553287 | NPHS2 | c.169C>A (p.Pro57Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575697C>A | CA343553290 | NPHS2 | c.168G>T (p.Glu56Asp) | gnomAD v4 |
| 1 | g.179575697C= | CA1210326676 | NPHS2 | c.168G= (p.Glu56=) | |
| 1 | g.179575697C>G | CA343553293 | NPHS2 | c.168G>C (p.Glu56Asp) | |
| 1 | g.179575697C>T | CA421996590 | NPHS2 | c.168G>A (p.Glu56=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179575697_179575698delinsCT | CA1210326677 | NPHS2 | c.167_168delinsAG (p.Glu56=) | |
| 1 | g.179575698del | CA913189510 | NPHS2 | c.167del (p.Glu56GlyfsTer?) | ClinVar dbSNP |
| 1 | g.179575698T>A | CA343553297 | NPHS2 | c.167A>T (p.Glu56Val) | |
| 1 | g.179575698T>C | CA1267306 | NPHS2 | c.167A>G (p.Glu56Gly) | ClinVar dbSNP ExAC gnomAD v2 |
| 1 | g.179575698T>G | CA343553298 | NPHS2 | c.167A>C (p.Glu56Ala) | |
| 1 | g.179575698T= | CA1149136072 | NPHS2 | c.167A= (p.Glu56=) | |
| 1 | g.179575698dup | CA913071835 | NPHS2 | c.167dup (p.Pro57AlafsTer13) | |
| 1 | g.179575699C>A | CA343553305 | NPHS2 | c.166G>T (p.Glu56Ter) | ClinVar dbSNP gnomAD v4 |
| 1 | g.179575699C= | CA1210326678 | NPHS2 | c.166G= (p.Glu56=) | |
| 1 | g.179575699C>G | CA343553308 | NPHS2 | c.166G>C (p.Glu56Gln) | |
| 1 | g.179575699C>T | CA343553310 | NPHS2 | c.166G>A (p.Glu56Lys) | dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.179575703dup | CA658822857 | NPHS2 | c.166dup (p.Glu56GlyfsTer14) | ClinVar dbSNP |
| 1 | g.179575703del | CA2649317007 | NPHS2 | c.166del (p.Glu56SerfsTer?) | gnomAD v4 |
| 1 | g.179575700C>A | CA421996626 | NPHS2 | c.165G>T (p.Gly55=) | |
| 1 | g.179575700C>G | CA421996627 | NPHS2 | c.165G>C (p.Gly55=) | |
| 1 | g.179575700C>T | CA421996628 | NPHS2 | c.165G>A (p.Gly55=) | gnomAD v4 |
| 1 | g.179575701C>A | CA343553312 | NPHS2 | c.164G>T (p.Gly55Val) | |
| 1 | g.179575701C= | CA1210326679 | NPHS2 | c.164G= (p.Gly55=) | |
| 1 | g.179575701C>G | CA343553315 | NPHS2 | c.164G>C (p.Gly55Ala) | dbSNP |
| 1 | g.179575701C>T | CA343553322 | NPHS2 | c.164G>A (p.Gly55Glu) | gnomAD v4 |