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New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 1 | g.179575706G>A | CA421996681 | NPHS2 | c.159C>T (p.Thr53=) | gnomAD v4 |
| 1 | g.179575706G>C | CA421996684 | NPHS2 | c.159C>G (p.Thr53=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.179575706G= | CA1210326683 | NPHS2 | c.159C= (p.Thr53=) | |
| 1 | g.179575706G>T | CA421996689 | NPHS2 | c.159C>A (p.Thr53=) | gnomAD v4 |
| 1 | g.179575707G>A | CA343553368 | NPHS2 | c.158C>T (p.Thr53Ile) | |
| 1 | g.179575707G>C | CA343553376 | NPHS2 | c.158C>G (p.Thr53Ser) | |
| 1 | g.179575707G>T | CA343553372 | NPHS2 | c.158C>A (p.Thr53Asn) | gnomAD v4 |
| 1 | g.179575708T>A | CA343553380 | NPHS2 | c.157A>T (p.Thr53Ser) | |
| 1 | g.179575708T>C | CA343553394 | NPHS2 | c.157A>G (p.Thr53Ala) | gnomAD v4 |
| 1 | g.179575708T>G | CA33653862 | NPHS2 | c.157A>C (p.Thr53Pro) | ClinVar dbSNP gnomAD v4 |
| 1 | g.179575708T= | CA1210326684 | NPHS2 | c.157A= (p.Thr53=) | |
| 1 | g.179575708_179575709delinsTC | CA1210326685 | NPHS2 | c.156_157delinsGA (p.Gly52=) | |
| 1 | g.179575709C>A | CA421996732 | NPHS2 | c.156G>T (p.Gly52=) | |
| 1 | g.179575709C= | CA1210326686 | NPHS2 | c.156G= (p.Gly52=) | |
| 1 | g.179575709C>G | CA421996722 | NPHS2 | c.156G>C (p.Gly52=) | |
| 1 | g.179575709C>T | CA421996719 | NPHS2 | c.156G>A (p.Gly52=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.179575712dup | CA2649317008 | NPHS2 | c.156dup (p.Thr53AspfsTer17) | gnomAD v4 |
| 1 | g.179575712del | CA658683169 | NPHS2 | c.156del (p.Thr53ProfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179575711_179575819del | CA2580061520 | NPHS2 | c.48_156del (p.Gly17ProfsTer?) | ClinVar |
| 1 | g.179575710C>A | CA343553398 | NPHS2 | c.155G>T (p.Gly52Val) | |
| 1 | g.179575710C>G | CA343553405 | NPHS2 | c.155G>C (p.Gly52Ala) | |
| 1 | g.179575710C>T | CA343553407 | NPHS2 | c.155G>A (p.Gly52Glu) | gnomAD v4 |
| 1 | g.179575711C>A | CA343553411 | NPHS2 | c.154G>T (p.Gly52Trp) | gnomAD v4 |
| 1 | g.179575711C= | CA1210326687 | NPHS2 | c.154G= (p.Gly52=) | |
| 1 | g.179575711C>G | CA343553413 | NPHS2 | c.154G>C (p.Gly52Arg) | |
| 1 | g.179575711C>T | CA343553417 | NPHS2 | c.154G>A (p.Gly52Arg) | dbSNP |
| 1 | g.179575712C>A | CA421996756 | NPHS2 | c.153G>T (p.Ala51=) | gnomAD v4 |
| 1 | g.179575712C>G | CA421996759 | NPHS2 | c.153G>C (p.Ala51=) | |
| 1 | g.179575712C>T | CA421996761 | NPHS2 | c.153G>A (p.Ala51=) | dbSNP |
| 1 | g.179575713G>A | CA33653875 | NPHS2 | c.152C>T (p.Ala51Val) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575713G>C | CA343553422 | NPHS2 | c.152C>G (p.Ala51Gly) | |
| 1 | g.179575713G= | CA1210326688 | NPHS2 | c.152C= (p.Ala51=) | |
| 1 | g.179575713G>T | CA343553427 | NPHS2 | c.152C>A (p.Ala51Glu) | gnomAD v4 |
| 1 | g.179575713_179575714delinsAG | CA2580061521 | NPHS2 | c.151_152delinsCT (p.Ala51Leu) | ClinVar |
| 1 | g.179575714C>A | CA343553434 | NPHS2 | c.151G>T (p.Ala51Ser) | dbSNP |
| 1 | g.179575714C= | CA1210326689 | NPHS2 | c.151G= (p.Ala51=) | |
| 1 | g.179575714C>G | CA33653880 | NPHS2 | c.151G>C (p.Ala51Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575714C>T | CA343553440 | NPHS2 | c.151G>A (p.Ala51Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575715C>A | CA421996786 | NPHS2 | c.150G>T (p.Arg50=) | COSMIC |
| 1 | g.179575715C= | CA1210326690 | NPHS2 | c.150G= (p.Arg50=) | |
| 1 | g.179575715C>G | CA421996791 | NPHS2 | c.150G>C (p.Arg50=) | |
| 1 | g.179575715C>T | CA421996792 | NPHS2 | c.150G>A (p.Arg50=) | dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179575716C>A | CA343553449 | NPHS2 | c.149G>T (p.Arg50Leu) | gnomAD v4 |
| 1 | g.179575716C= | CA1210326691 | NPHS2 | c.149G= (p.Arg50=) | |
| 1 | g.179575716C>G | CA343553452 | NPHS2 | c.149G>C (p.Arg50Pro) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575716C>T | CA343553450 | NPHS2 | c.149G>A (p.Arg50Gln) | gnomAD v4 |
| 1 | g.179575717del | CA2649317009 | NPHS2 | c.148del (p.Arg50GlyfsTer?) | gnomAD v4 |
| 1 | g.179575717G>A | CA10608825 | NPHS2 | c.148C>T (p.Arg50Trp) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575717G>C | CA343553458 | NPHS2 | c.148C>G (p.Arg50Gly) | dbSNP gnomAD v4 |
| 1 | g.179575717G= | CA1210326692 | NPHS2 | c.148C= (p.Arg50=) | |
| 1 | g.179575717G>T | CA421996804 | NPHS2 | c.148C>A (p.Arg50=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179575718T>A | CA421996809 | NPHS2 | c.147A>T (p.Gly49=) | |
| 1 | g.179575718T>C | CA421996812 | NPHS2 | c.147A>G (p.Gly49=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575718T>G | CA421996816 | NPHS2 | c.147A>C (p.Gly49=) | |
| 1 | g.179575718T= | CA1210326693 | NPHS2 | c.147A= (p.Gly49=) | |
| 1 | g.179575719C>A | CA343553463 | NPHS2 | c.146G>T (p.Gly49Val) | |
| 1 | g.179575719C= | CA1210326694 | NPHS2 | c.146G= (p.Gly49=) | |
| 1 | g.179575719C>G | CA343553466 | NPHS2 | c.146G>C (p.Gly49Ala) | dbSNP |
| 1 | g.179575719C>T | CA343553470 | NPHS2 | c.146G>A (p.Gly49Glu) | |
| 1 | g.179575720C>A | CA343553475 | NPHS2 | c.145G>T (p.Gly49Ter) | gnomAD v4 |
| 1 | g.179575720C>G | CA343553495 | NPHS2 | c.145G>C (p.Gly49Arg) | gnomAD v4 |
| 1 | g.179575720C>T | CA343553498 | NPHS2 | c.145G>A (p.Gly49Arg) | |
| 1 | g.179575721G>A | CA1267307 | NPHS2 | c.144C>T (p.Ser48=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575721G>C | CA421996847 | NPHS2 | c.144C>G (p.Ser48=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575721G= | CA1141195170 | NPHS2 | c.144C= (p.Ser48=) | |
| 1 | g.179575721G>T | CA421996851 | NPHS2 | c.144C>A (p.Ser48=) | |
| 1 | g.179575722G>A | CA343553503 | NPHS2 | c.143C>T (p.Ser48Phe) | gnomAD v4 COSMIC |
| 1 | g.179575722G>C | CA343553501 | NPHS2 | c.143C>G (p.Ser48Cys) | |
| 1 | g.179575722G= | CA1210326695 | NPHS2 | c.143C= (p.Ser48=) | |
| 1 | g.179575722G>T | CA10604789 | NPHS2 | c.143C>A (p.Ser48Tyr) | ClinVar dbSNP gnomAD v4 |
| 1 | g.179575723A>C | CA343553516 | NPHS2 | c.142T>G (p.Ser48Ala) | |
| 1 | g.179575723A>G | CA343553520 | NPHS2 | c.142T>C (p.Ser48Pro) | gnomAD v4 |
| 1 | g.179575723A>T | CA343553522 | NPHS2 | c.142T>A (p.Ser48Thr) | |
| 1 | g.179575723_179575727dup | CA16040671 | NPHS2 | c.138_142dup (p.Ser48TrpfsTer?) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179575724G>A | CA421996889 | NPHS2 | c.141C>T (p.Gly47=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.179575724G>C | CA421996884 | NPHS2 | c.141C>G (p.Gly47=) | |
| 1 | g.179575724G= | CA1210326696 | NPHS2 | c.141C= (p.Gly47=) | |
| 1 | g.179575724G>T | CA1267308 | NPHS2 | c.141C>A (p.Gly47=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179575725C>A | CA343553538 | NPHS2 | c.140G>T (p.Gly47Val) | |
| 1 | g.179575725C>G | CA343553541 | NPHS2 | c.140G>C (p.Gly47Ala) | |
| 1 | g.179575725C>T | CA343553546 | NPHS2 | c.140G>A (p.Gly47Asp) | |
| 1 | g.179575726C>A | CA343553550 | NPHS2 | c.139G>T (p.Gly47Cys) | |
| 1 | g.179575726C>G | CA343553558 | NPHS2 | c.139G>C (p.Gly47Arg) | |
| 1 | g.179575726C>T | CA343553560 | NPHS2 | c.139G>A (p.Gly47Ser) | |
| 1 | g.179575727C>A | CA421996929 | NPHS2 | c.138G>T (p.Ser46=) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 1 | g.179575727C= | CA1210326697 | NPHS2 | c.138G= (p.Ser46=) | |
| 1 | g.179575727C>G | CA421996925 | NPHS2 | c.138G>C (p.Ser46=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179575727C>T | CA33653942 | NPHS2 | c.138G>A (p.Ser46=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575728G>A | CA343553566 | NPHS2 | c.137C>T (p.Ser46Leu) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575728G>C | CA343553565 | NPHS2 | c.137C>G (p.Ser46Trp) | dbSNP gnomAD v4 |
| 1 | g.179575728G= | CA1210326698 | NPHS2 | c.137C= (p.Ser46=) | |
| 1 | g.179575728G>T | CA343553564 | NPHS2 | c.137C>A (p.Ser46Ter) | dbSNP gnomAD v4 |
| 1 | g.179575728_179575729del | CA2746821928 | NPHS2 | c.136_137del (p.Ser46GlyfsTer23) | |
| 1 | g.179575729A>C | CA343553567 | NPHS2 | c.136T>G (p.Ser46Ala) | |
| 1 | g.179575729A>G | CA343553568 | NPHS2 | c.136T>C (p.Ser46Pro) | |
| 1 | g.179575729A>T | CA343553570 | NPHS2 | c.136T>A (p.Ser46Thr) | |
| 1 | g.179575730C>A | CA421996971 | NPHS2 | c.135G>T (p.Pro45=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575730C= | CA1148377789 | NPHS2 | c.135G= (p.Pro45=) | |
| 1 | g.179575730C>G | CA1267309 | NPHS2 | c.135G>C (p.Pro45=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575730C>T | CA33653944 | NPHS2 | c.135G>A (p.Pro45=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.179575731_179575744dup | CA2580611213 | NPHS2 | c.122_135dup (p.Ser46LeufsTer?) | ClinVar |
| 1 | g.179575731G>A | CA343553588 | NPHS2 | c.134C>T (p.Pro45Leu) | gnomAD v4 |
| 1 | g.179575731G>C | CA1267310 | NPHS2 | c.134C>G (p.Pro45Arg) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575731G= | CA1210326699 | NPHS2 | c.134C= (p.Pro45=) | |
| 1 | g.179575731G>T | CA343553601 | NPHS2 | c.134C>A (p.Pro45Gln) | gnomAD v4 |
| 1 | g.179575732del | CA2586967767 | NPHS2 | c.134del (p.Pro45ArgfsTer?) | |
| 1 | g.179575732G>A | CA343553604 | NPHS2 | c.133C>T (p.Pro45Ser) | gnomAD v4 |
| 1 | g.179575732G>C | CA343553606 | NPHS2 | c.133C>G (p.Pro45Ala) | |
| 1 | g.179575732G>T | CA343553610 | NPHS2 | c.133C>A (p.Pro45Thr) | dbSNP gnomAD v4 |
| 1 | g.179575733C>A | CA343553613 | NPHS2 | c.132G>T (p.Glu44Asp) | gnomAD v4 |
| 1 | g.179575733C= | CA1210326700 | NPHS2 | c.132G= (p.Glu44=) | |
| 1 | g.179575733C>G | CA343553615 | NPHS2 | c.132G>C (p.Glu44Asp) | |
| 1 | g.179575733C>T | CA1267311 | NPHS2 | c.132G>A (p.Glu44=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.179575733dup | CA2586967768 | NPHS2 | c.132dup (p.Pro45AlafsTer25) | |
| 1 | g.179575734T>A | CA343553630 | NPHS2 | c.131A>T (p.Glu44Val) | |
| 1 | g.179575734T>C | CA343553633 | NPHS2 | c.131A>G (p.Glu44Gly) | gnomAD v4 |
| 1 | g.179575734T>G | CA343553624 | NPHS2 | c.131A>C (p.Glu44Ala) | |
| 1 | g.179575735C>A | CA343553635 | NPHS2 | c.130G>T (p.Glu44Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575735C= | CA1210326701 | NPHS2 | c.130G= (p.Glu44=) | |
| 1 | g.179575735C>G | CA343553634 | NPHS2 | c.130G>C (p.Glu44Gln) | |
| 1 | g.179575735C>T | CA1267312 | NPHS2 | c.130G>A (p.Glu44Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575736G>A | CA421997031 | NPHS2 | c.129C>T (p.Pro43=) | ClinVar dbSNP |
| 1 | g.179575736G>C | CA421997034 | NPHS2 | c.129C>G (p.Pro43=) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575736G= | CA1210326702 | NPHS2 | c.129C= (p.Pro43=) | |
| 1 | g.179575736G>T | CA421997038 | NPHS2 | c.129C>A (p.Pro43=) | ClinVar dbSNP gnomAD v4 |
| 1 | g.179575738del | CA2649317010 | NPHS2 | c.129del (p.Glu44SerfsTer?) | gnomAD v4 |
| 1 | g.179575737G>A | CA343553636 | NPHS2 | c.128C>T (p.Pro43Leu) | |
| 1 | g.179575737G>C | CA343553637 | NPHS2 | c.128C>G (p.Pro43Arg) | |
| 1 | g.179575737G>T | CA343553639 | NPHS2 | c.128C>A (p.Pro43His) | gnomAD v4 |
| 1 | g.179575738G>A | CA343553641 | NPHS2 | c.127C>T (p.Pro43Ser) | gnomAD v4 |
| 1 | g.179575738G>C | CA33653980 | NPHS2 | c.127C>G (p.Pro43Ala) | dbSNP |
| 1 | g.179575738G= | CA1145654591 | NPHS2 | c.127C= (p.Pro43=) | |
| 1 | g.179575738G>T | CA343553646 | NPHS2 | c.127C>A (p.Pro43Thr) | gnomAD v4 |
| 1 | g.179575739C>A | CA421997051 | NPHS2 | c.126G>T (p.Gly42=) | gnomAD v4 |
| 1 | g.179575739C= | CA1210326703 | NPHS2 | c.126G= (p.Gly42=) | |
| 1 | g.179575739C>G | CA421997061 | NPHS2 | c.126G>C (p.Gly42=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575739C>T | CA1267313 | NPHS2 | c.126G>A (p.Gly42=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575739_179575740delinsTT | CA645518943 | NPHS2 | c.125_126delinsAA (p.Gly42Glu) | COSMIC |
| 1 | g.179575741del | CA2649317011 | NPHS2 | c.126del (p.Glu44SerfsTer?) | gnomAD v4 |
| 1 | g.179575740_179575762dup | CA2831039334 | NPHS2 | c.104_126dup (p.Pro43AlafsTer?) | |
| 1 | g.179575740C>A | CA343553657 | NPHS2 | c.125G>T (p.Gly42Val) | gnomAD v4 |
| 1 | g.179575740C>G | CA343553660 | NPHS2 | c.125G>C (p.Gly42Ala) | |
| 1 | g.179575740C>T | CA343553664 | NPHS2 | c.125G>A (p.Gly42Glu) | gnomAD v4 |
| 1 | g.179575741C>A | CA343553677 | NPHS2 | c.124G>T (p.Gly42Trp) | |
| 1 | g.179575741C= | CA1146717272 | NPHS2 | c.124G= (p.Gly42=) | |
| 1 | g.179575741C>G | CA343553682 | NPHS2 | c.124G>C (p.Gly42Arg) | |
| 1 | g.179575741C>T | CA1267314 | NPHS2 | c.124G>A (p.Gly42Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575742A>C | CA421997077 | NPHS2 | c.123T>G (p.Ala41=) | gnomAD v4 |
| 1 | g.179575742A>G | CA421997082 | NPHS2 | c.123T>C (p.Ala41=) | |
| 1 | g.179575742A>T | CA421997097 | NPHS2 | c.123T>A (p.Ala41=) | |
| 1 | g.179575743G>A | CA343553687 | NPHS2 | c.122C>T (p.Ala41Val) | gnomAD v4 |
| 1 | g.179575743G>C | CA1267315 | NPHS2 | c.122C>G (p.Ala41Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575743G= | CA1210326704 | NPHS2 | c.122C= (p.Ala41=) | |
| 1 | g.179575743G>T | CA343553702 | NPHS2 | c.122C>A (p.Ala41Asp) | gnomAD v4 |
| 1 | g.179575744C>A | CA1267316 | NPHS2 | c.121G>T (p.Ala41Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.179575744C= | CA1210326705 | NPHS2 | c.121G= (p.Ala41=) | |
| 1 | g.179575744C>G | CA343553721 | NPHS2 | c.121G>C (p.Ala41Pro) | |
| 1 | g.179575744C>T | CA343553723 | NPHS2 | c.121G>A (p.Ala41Thr) | |
| 1 | g.179575745C>A | CA343553725 | NPHS2 | c.120G>T (p.Glu40Asp) | gnomAD v4 |
| 1 | g.179575745C= | CA1210326706 | NPHS2 | c.120G= (p.Glu40=) | |
| 1 | g.179575745C>G | CA343553726 | NPHS2 | c.120G>C (p.Glu40Asp) | |
| 1 | g.179575745C>T | CA421997127 | NPHS2 | c.120G>A (p.Glu40=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 1 | g.179575746_179575747del | CA2649317012 | NPHS2 | c.119_120del (p.Glu40GlyfsTer29) | gnomAD v4 |
| 1 | g.179575746T>A | CA343553731 | NPHS2 | c.119A>T (p.Glu40Val) | |
| 1 | g.179575746T>C | CA343553734 | NPHS2 | c.119A>G (p.Glu40Gly) | dbSNP gnomAD v4 |
| 1 | g.179575746T>G | CA343553739 | NPHS2 | c.119A>C (p.Glu40Ala) | |
| 1 | g.179575751_179575814del | CA2649317013 | NPHS2 | c.56_119del (p.Thr19ArgfsTer?) | gnomAD v4 |
| 1 | g.179575747C>A | CA1267317 | NPHS2 | c.118G>T (p.Glu40Ter) | dbSNP ExAC gnomAD v4 |
| 1 | g.179575747C= | CA1210326707 | NPHS2 | c.118G= (p.Glu40=) | |
| 1 | g.179575747C>G | CA343553752 | NPHS2 | c.118G>C (p.Glu40Gln) | |
| 1 | g.179575747C>T | CA343553755 | NPHS2 | c.118G>A (p.Glu40Lys) | gnomAD v4 |
| 1 | g.179575748C>A | CA343553760 | NPHS2 | c.117G>T (p.Gln39His) | gnomAD v4 |
| 1 | g.179575748C= | CA1210326708 | NPHS2 | c.117G= (p.Gln39=) | |
| 1 | g.179575748C>G | CA343553763 | NPHS2 | c.117G>C (p.Gln39His) | |
| 1 | g.179575748C>T | CA33654007 | NPHS2 | c.117G>A (p.Gln39=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575749T>A | CA343553765 | NPHS2 | c.116A>T (p.Gln39Leu) | |
| 1 | g.179575749T>C | CA343553766 | NPHS2 | c.116A>G (p.Gln39Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575749T>G | CA343553767 | NPHS2 | c.116A>C (p.Gln39Pro) | dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.179575749T= | CA1210326709 | NPHS2 | c.116A= (p.Gln39=) | |
| 1 | g.179575750G>A | CA354118 | NPHS2 | c.115C>T (p.Gln39Ter) | ClinVar dbSNP |
| 1 | g.179575750G>C | CA343553768 | NPHS2 | c.115C>G (p.Gln39Glu) | |
| 1 | g.179575750G= | CA1210326710 | NPHS2 | c.115C= (p.Gln39=) | |
| 1 | g.179575750G>T | CA343553772 | NPHS2 | c.115C>A (p.Gln39Lys) | gnomAD v4 |
| 1 | g.179575750_179575751insA | CA2586967769 | NPHS2 | c.114_115insT (p.Gln39SerfsTer?) | |
| 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 |
| 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 |